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Decreased activity of mitochondrial complex I

MedGen UID:
393796
Concept ID:
C2677650
Finding
Synonym: Decreased mitochondrial complex I activity
 
HPO: HP:0011923

Definition

A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Decreased activity of mitochondrial complex I

Conditions with this feature

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
MedGen UID:
322999
Concept ID:
C1836797
Disease or Syndrome
Combined oxidative phosphorylation deficiency is an autosomal recessive multisystem disorder with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation (OXPHOS) system. Onset occurs at or soon after birth, and features can include growth retardation, microcephaly, hypertonicity, axial hypotonia, encephalopathy, cardiomyopathy, and liver dysfunction. Death usually occurs in the first weeks or years of life (summary by Smits et al., 2011). Genetic Heterogeneity of Combined Oxidative Phosphorylation Deficiency See also COXPD2 (610498), caused by mutation in the MRPS16 gene (609204) on 10q22; COXPD3 (610505), caused by mutation in the TSFM gene (604723) on 12q14; COXPD4 (610678), caused by mutation in the TUFM gene (602389) on 16p11; COXPD5 (611719), caused by mutation in the MRPS22 gene (605810) on 3q23; COXPD6 (300816), caused by mutation in the AIFM1 gene (300169) on Xq26; COXPD7 (613559), caused by mutation in the MTRFR gene (613541) on 12q24; COXPD8 (614096), caused by mutation in the AARS2 gene (612035) on 6p21; COXPD9 (614582), caused by mutation in the MRPL3 gene (607118) on 3q22; COXPD10 (614702), caused by mutation in the MTO1 gene (614667) on 6q13; COXPD11 (614922), caused by mutation in the RMND1 gene (614917) on 6q25; COXPD12 (614924), caused by mutation in the EARS2 gene (612799) on 16p13; COXPD13 (614932), caused by mutation in the PNPT1 gene (610316) on 2p16; COXPD14 (614946), caused by mutation in the FARS2 gene (611592) on 6p25; COXPD15 (614947), caused by mutation in the MTFMT gene (611766) on 15q; COXPD16 (615395), caused by mutation in the MRPL44 gene (611849) on 2q36; COXPD17 (615440), caused by mutation in the ELAC2 gene (605367) on 17p11; COXPD18 (615578), caused by mutation in the SFXN4 gene (615564) on 10q26; COXPD19 (615595), caused by mutation in the LYRM4 gene (613311) on 6p25; COXPD20 (615917), caused by mutation in the VARS2 gene (612802) on 6p21; COXPD21 (615918), caused by mutation in the TARS2 gene (612805) on 1q21; COXPD22 (616045), caused by mutation in the ATP5A1 gene (164360) on 18q12; COXPD23 (616198), caused by mutation in the GTPBP3 (608536) gene on 19p13; COXPD24 (616239), caused by mutation in the NARS2 gene (612803) on 11q14; COXPD25 (616430), caused by mutation in the MARS2 gene (609728) on 2q33; COXPD26 (616539), caused by mutation in the TRMT5 gene (611023) on 14q23; COXPD27 (616672), caused by mutation in the CARS2 gene (612800) on 13q34; COXPD28 (616794), caused by mutation in the SLC25A26 gene (611037) on 3p14; COXPD29 (616811), caused by mutation in the TXN2 gene (609063) on 22q12; COXPD30 (616974), caused by mutation in the TRMT10C gene (615423) on 3q12; and COXPD31 (617228), caused by mutation in the MIPEP gene (602241) on 13q12; COXPD32 (617664), caused by mutation in the MRPS34 gene (611994) on 16q13; COXPD33 (617713), caused by mutation in the C1QBP gene (601269) on 17p13; and COXPD34 (617872), caused by mutation in the MRPS7 gene (611974) on 17q25; COXPD35 (617873), caused by mutation in the TRIT1 gene (617840) on 1p34; COXPD36 (617950), caused by mutation in the MRPS2 gene (611971) on 9q34; COXPD37 (618329), caused by mutation in the MICOS13 gene (616658) on 19p13; COXPD38 (618378), caused by mutation in the MRPS14 gene (611978) on 1q23; COXPD39 (618397), caused by mutation in the GFM2 gene (606544) on 5q13; COXPD40 (618835), caused by mutation in the QRSL1 gene (617209) on 6q21; COXPD41 (618838), caused by mutation in the GATB gene (603645) on 4q31; COXPD42 (618839), caused by mutation in the GATC gene (617210) on 12q24; COXPD43 (618851), caused by mutation in the TIMM22 gene (607251) on 17p13; COXPD44 (618855), caused by mutation in the FASTKD2 gene (612322) on 2q33; COXPD45 (618951), caused by mutation in the MRPL12 gene (602375) on 17q25; COXPD46 (618952), caused by mutation in the MRPS23 gene (611985) on 17q22; COXPD47 (618958), caused by mutation in the MRPS28 gene (611990) on 8q21; COXPD48 (619012), caused by mutation in the NSUN3 gene (617491) on 3q11; COXPD49 (619024), caused by mutation in the MIEF2 gene (615498) on 17p11; COXPD50 (619025), caused by mutation in the MRPS25 gene (611987) on 3p25; COXPD51 (619057), caused by mutation in the PTCD3 gene (614918) on 2p11; COXPD52 (619386), caused by mutation in the NFS1 gene (603485) on 20q11; COXPD53 (619423), caused by mutation in the C2ORF69 gene (619219) on 2q33; and COXPD54 (619737), caused by mutation in the PRORP gene (609947) on 14q13.; COXPD55 (619743), caused by mutation in the POLRMT gene (601778) on 19p13; COXPD56 (620139), caused by mutation in the TAMM41 gene (614948) on 3p25; COXPD57 (620167), caused by mutation in the CRLS1 gene (608188) on 20p12; COXPD58 (620451), caused by mutation in the TEFM gene (616422) on 17q11; and COXPD59 (620646), caused by mutation in the MRPL39 gene (611845) on 21q21.
Mitochondrial complex I deficiency
MedGen UID:
374101
Concept ID:
C1838979
Disease or Syndrome
Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
MedGen UID:
338045
Concept ID:
C1850406
Disease or Syndrome
MPV17-related mitochondrial DNA (mtDNA) maintenance defect presents in the vast majority of affected individuals as an early-onset encephalohepatopathic (hepatocerebral) disease that is typically associated with mtDNA depletion, particularly in the liver. A later-onset neuromyopathic disease characterized by myopathy and neuropathy, and associated with multiple mtDNA deletions in muscle, has also rarely been described. MPV17-related mtDNA maintenance defect, encephalohepatopathic form is characterized by: Hepatic manifestations (liver dysfunction that typically progresses to liver failure, cholestasis, hepatomegaly, and steatosis); Neurologic involvement (developmental delay, hypotonia, microcephaly, and motor and sensory peripheral neuropathy); Gastrointestinal manifestations (gastrointestinal dysmotility, feeding difficulties, and failure to thrive); and Metabolic derangements (lactic acidosis and hypoglycemia). Less frequent manifestations include renal tubulopathy, nephrocalcinosis, and hypoparathyroidism. Progressive liver disease often leads to death in infancy or early childhood. Hepatocellular carcinoma has been reported.
Hereditary myopathy with lactic acidosis due to ISCU deficiency
MedGen UID:
342573
Concept ID:
C1850718
Disease or Syndrome
Hereditary myopathy with lactic acidosis (HML) is an autosomal recessive muscular disorder characterized by childhood onset of exercise intolerance with muscle tenderness, cramping, dyspnea, and palpitations. Biochemical features include lactic acidosis and, rarely, rhabdomyolysis. It is a chronic disorder with remission and exacerbation of the muscle phenotype (summary by Sanaker et al., 2010).
Sengers syndrome
MedGen UID:
395228
Concept ID:
C1859317
Disease or Syndrome
Sengers syndrome is an autosomal recessive mitochondrial disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Mental development is normal, but affected individuals may die early from cardiomyopathy (summary by Mayr et al., 2012). Skeletal muscle biopsies of 2 affected individuals showed severe mtDNA depletion (Calvo et al., 2012).
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
MedGen UID:
355842
Concept ID:
C1864840
Disease or Syndrome
Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.
Combined oxidative phosphorylation defect type 2
MedGen UID:
400626
Concept ID:
C1864843
Disease or Syndrome
A rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.
Pontocerebellar hypoplasia type 6
MedGen UID:
370596
Concept ID:
C1969084
Congenital Abnormality
Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem and associated with severe developmental delay (Edvardson et al., 2007). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596).
Hypotonia with lactic acidemia and hyperammonemia
MedGen UID:
435972
Concept ID:
C2673642
Disease or Syndrome
This syndrome is characterized by severe hypotonia, lactic acidemia and congenital hyperammonemia. It has been described in three newborns born to consanguineous parents. Ultrasound examination during the 36th week of pregnancy revealed generalized edema. Hypertrophic cardiomyopathy and tubulopathy developed within the first week of life and the infants died within the first month. The activities of enzymes in the mitochondrial respiratory chain were reduced in the muscles of the patients. Mutations were identified in the MRPS22 gene on chromosome 3q23, encoding a mitochondrial ribosomal protein
Mitochondrial DNA depletion syndrome, myopathic form
MedGen UID:
461100
Concept ID:
C3149750
Disease or Syndrome
TK2-related mitochondrial DNA (mtDNA) maintenance defect is a phenotypic continuum that ranges from severe to mild. To date, approximately 107 individuals with a molecularly confirmed diagnosis have been reported. Three main subtypes of presentation have been described: Infantile-onset myopathy with neurologic involvement and rapid progression to early death. Affected individuals experience progressive muscle weakness leading to respiratory failure. Some individuals develop dysarthria, dysphagia, and/or hearing loss. Cognitive function is typically spared. Juvenile/childhood onset with generalized proximal weakness and survival to at least 13 years. Late-/adult-onset myopathy with facial and limb weakness and mtDNA deletions. Some affected individuals develop respiratory insufficiency, chronic progressive external ophthalmoplegia, dysphagia, and dysarthria.
Combined oxidative phosphorylation defect type 7
MedGen UID:
462151
Concept ID:
C3150801
Disease or Syndrome
A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.
Myopathy, lactic acidosis, and sideroblastic anemia 2
MedGen UID:
462152
Concept ID:
C3150802
Disease or Syndrome
Myopathy, lactic acidosis, and sideroblastic anemia-2 (MLASA2) is an autosomal recessive disorder of the mitochondrial respiratory chain. The disorder shows marked phenotypic variability: some patients have a severe multisystem disorder from infancy, including cardiomyopathy and respiratory insufficiency resulting in early death, whereas others present in the second or third decade of life with sideroblastic anemia and mild muscle weakness (summary by Riley et al., 2013). For a discussion of genetic heterogeneity of MLASA, see MLASA1 (600462).
Mitochondrial DNA depletion syndrome 4b
MedGen UID:
462264
Concept ID:
C3150914
Disease or Syndrome
POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of the POLG-related disorders ranges from infancy to late adulthood. Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life and about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations of POLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, parkinsonism, hypogonadism, and cataracts (in what has been called "chronic progressive external ophthalmoplegia plus," or "CPEO+").
Mitochondrial DNA depletion syndrome 9
MedGen UID:
462826
Concept ID:
C3151476
Disease or Syndrome
SUCLG1-related mitochondrial DNA (mtDNA) depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized in the majority of affected newborns by hypotonia, muscle atrophy, feeding difficulties, and lactic acidosis. Affected infants commonly manifest developmental delay / cognitive impairment, growth retardation / failure to thrive, hepatopathy, sensorineural hearing impairment, dystonia, and hypertonia. Notable findings in some affected individuals include hypertrophic cardiomyopathy, epilepsy, myoclonus, microcephaly, sleep disturbance, rhabdomyolysis, contractures, hypothermia, and/or hypoglycemia. Life span is shortened, with median survival of 20 months.
Multiple mitochondrial dysfunctions syndrome 2
MedGen UID:
482008
Concept ID:
C3280378
Disease or Syndrome
Multiple mitochondrial dysfunctions syndrome-2 (MMDS2) with hyperglycinemia is a severe autosomal recessive disorder characterized by developmental regression in infancy. Affected children have an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement. Additional more variable features include optic atrophy, cardiomyopathy, and leukodystrophy. Laboratory studies show increased serum glycine and lactate. Most patients die in childhood. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; 605899), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including MMDS2, appear to result from defects of mitochondrial lipoate biosynthesis (summary by Baker et al., 2014). For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (605711).
Mitochondrial DNA depletion syndrome 11
MedGen UID:
767376
Concept ID:
C3554462
Disease or Syndrome
Mitochondrial DNA depletion syndrome-11 is an autosomal recessive mitochondrial disorder characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness. More variable features include spinal deformity, emaciation, and cardiac abnormalities. Skeletal muscle biopsies show deletion and depletion of mitochondrial DNA (mtDNA) with variable defects in respiratory chain enzyme activities (summary by Kornblum et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041).
Multiple mitochondrial dysfunctions syndrome 3
MedGen UID:
815495
Concept ID:
C3809165
Disease or Syndrome
Multiple mitochondrial dysfunctions syndrome-3 (MMDS3) is an autosomal recessive severe neurodegenerative disorder characterized by loss of previously acquired developmental milestones in the first months or years of life. Some affected patients have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some patients die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some patients may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable. There may be additional biochemical evidence of mitochondrial dysfunction (summary by Liu et al., 2018). For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (605711).
Combined oxidative phosphorylation defect type 17
MedGen UID:
815856
Concept ID:
C3809526
Disease or Syndrome
Combined oxidative phosphorylation deficiency-17 (COXPD17) is an autosomal recessive disorder of mitochondrial dysfunction characterized by onset of severe hypertrophic cardiomyopathy in the first year of life. Other features include hypotonia, poor growth, lactic acidosis, and failure to thrive. The disorder may be fatal in early childhood (summary by Haack et al., 2013).
Mitochondrial DNA depletion syndrome 13
MedGen UID:
815922
Concept ID:
C3809592
Disease or Syndrome
FBXL4-related encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome is a multi-system disorder characterized primarily by congenital or early-onset lactic acidosis and growth failure, feeding difficulty, hypotonia, and developmental delay. Other neurologic manifestations can include seizures, movement disorders, ataxia, autonomic dysfunction, and stroke-like episodes. All affected individuals alive at the time they were reported (median age: 3.5 years) demonstrated significant developmental delay. Other findings can involve the heart (hypertrophic cardiomyopathy, congenital heart malformations, arrhythmias), liver (mildly elevated transaminases), eyes (cataract, strabismus, nystagmus, optic atrophy), hearing (sensorineural hearing loss), and bone marrow (neutropenia, lymphopenia). Survival varies; the median age of reported deaths was two years (range 2 days – 75 months), although surviving individuals as old as 36 years have been reported. To date FBXL4-related mtDNA depletion syndrome has been reported in 50 individuals.
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
MedGen UID:
816331
Concept ID:
C3810001
Disease or Syndrome
Combined oxidative phosphorylation deficiency-18 (COXPD18) is an autosomal recessive disorder of mitochondrial function characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis associated with decreased mitochondrial respiratory chain activity. Affected patients may also show hematologic abnormalities, mainly macrocytic anemia (summary by Hildick-Smith et al., 2013). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
Mitochondrial complex III deficiency nuclear type 7
MedGen UID:
862845
Concept ID:
C4014408
Disease or Syndrome
Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene.
Combined oxidative phosphorylation defect type 20
MedGen UID:
863097
Concept ID:
C4014660
Disease or Syndrome
Combined oxidative phosphorylation defect type 20 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable combination of psychomotor delay, hypotonia, muscle weakness, seizures, microcephaly, cardiomyopathy and mild dysmorphic facial features. Variable types of structural brain anomalies have also been reported. Biochemical studies typically show decreased activity of mitochondrial complexes (mainly complex I).
Combined oxidative phosphorylation deficiency 22
MedGen UID:
863499
Concept ID:
C4015062
Disease or Syndrome
Combined oxidative phosphorylation defect type 24
MedGen UID:
864080
Concept ID:
C4015643
Disease or Syndrome
Combined oxidative phosphorylation deficiency-24 (COXPD24) is an autosomal recessive mitochondrial disorder with wide phenotypic variability. Most patients present in infancy with delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment due to auditory neuropathy. Less common features may include cortical blindness, renal dysfunction, and/or liver involvement, suggestive of Alpers syndrome (MTDPS4A; 203700). Patients with the severe phenotype tend to have brain abnormalities on imaging, including cerebral atrophy and hyperintensities in the basal ganglia and brainstem, consistent with Leigh syndrome. Laboratory values may be normal or show increased lactate and evidence of mitochondrial respiratory chain defects, particularly in muscle. Some patients achieve little developmental milestones and may die in infancy or early childhood. However, some patients have a less severe phenotype manifest only by myopathy (summary by Sofou et al., 2015, Vanlander et al., 2015, and Mizuguchi et al., 2017). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
MedGen UID:
903789
Concept ID:
C4225163
Disease or Syndrome
Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the OPA1 gene.
Multiple mitochondrial dysfunctions syndrome 4
MedGen UID:
899010
Concept ID:
C4225348
Disease or Syndrome
Infants with ISCA2-related mitochondrial disorder (IRMD) typically attain normal development in the first months of life. At age three to seven months, affected individuals usually present with a triad of neurodevelopmental regression, nystagmus with optic atrophy, and diffuse white matter disease. As the disease progresses, global psychomotor regression continues at a variable pace and seizures may develop. Affected children become vegetative within one to two years. During their vegetative state, which may persist for years, affected individuals are prone to recurrent chest infections that may require ventilator support. Most affected individuals die during early childhood.
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
MedGen UID:
934643
Concept ID:
C4310676
Disease or Syndrome
MTDPS12A is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth. Affected infants have respiratory insufficiency requiring mechanical ventilation and have poor or no motor development. Many die in infancy, and those that survive have profound hypotonia with significant muscle weakness and inability to walk independently. Some patients develop hypertrophic cardiomyopathy. Muscle samples show mtDNA depletion and severe combined mitochondrial respiratory chain deficiencies (summary by Thompson et al., 2016). For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (603041).
Myopathy with abnormal lipid metabolism
MedGen UID:
934789
Concept ID:
C4310822
Disease or Syndrome
Lipid storage myopathy due to FLAD1 deficiency is an autosomal recessive inborn error of metabolism that includes variable mitochondrial dysfunction. The phenotype is extremely heterogeneous: some patients have a severe disorder with onset in infancy and cardiac and respiratory insufficiency resulting in early death, whereas others have a milder course with onset of muscle weakness in adulthood. Some patients show significant improvement with riboflavin treatment (summary by Olsen et al., 2016).
Combined oxidative phosphorylation defect type 8
MedGen UID:
1377817
Concept ID:
C4518839
Disease or Syndrome
Combined oxidative phosphorylation deficiency-8 (COXPD8) is an autosomal recessive disorder caused by dysfunction of the mitochondrial respiratory chain. The main clinical manifestation is a lethal infantile hypertrophic cardiomyopathy, but there may also be subtle skeletal muscle and brain involvement. Biochemical studies show combined respiratory chain complex deficiencies in complexes I, III, and IV in cardiac muscle, skeletal muscle, and brain. The liver is not affected (summary by Gotz et al., 2011). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
Combined oxidative phosphorylation deficiency 33
MedGen UID:
1623699
Concept ID:
C4540209
Disease or Syndrome
COXPD33 is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism. The phenotype is highly variable, ranging from death in infancy to adult-onset progressive external ophthalmoplegia (PEO) and myopathy. A common finding is cardiomyopathy and increased serum lactate (summary by Feichtinger et al., 2017). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
Myopathy, lactic acidosis, and sideroblastic anemia 1
MedGen UID:
1634824
Concept ID:
C4551958
Disease or Syndrome
Myopathy, lactic acidosis, and sideroblastic anemia (MLASA) is a rare autosomal recessive oxidative phosphorylation disorder specific to skeletal muscle and bone marrow (Bykhovskaya et al., 2004). Genetic Heterogeneity of Myopathy, Lactic Acidosis, and Sideroblastic Anemia MLASA2 (613561) is caused by mutation in the YARS2 gene (610957) on chromosome 12p11. MLASA3 (500011) is caused by heteroplasmic mutation in the mitochondrially-encoded MTATP6 gene (516060).
Combined oxidative phosphorylation deficiency 35
MedGen UID:
1639653
Concept ID:
C4693466
Disease or Syndrome
Combined oxidative phosphorylation deficiency-35 (COXPD35) is an autosomal recessive disorder characterized mainly by global developmental delay with intellectual disability, microcephaly, and early-onset myoclonic and other types of seizures. Affected individuals have variable deficiencies of mitochondrial respiratory enzyme complexes resulting from a defect in mitochondrial metabolism (summary by Kernohan et al., 2017). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
Combined oxidative phosphorylation defect type 15
MedGen UID:
1646555
Concept ID:
C4706313
Disease or Syndrome
A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported. Caused by homozygous or compound heterozygous mutation in the MTFMT gene on chromosome 15q22.
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
MedGen UID:
1645614
Concept ID:
C4706421
Disease or Syndrome
Combined oxidative phosphorylation deficiency-12 (COXPD12) is an autosomal recessive mitochondrial neurologic disorder characterized by onset in infancy of hypotonia and delayed psychomotor development, or early developmental regression, associated with T2-weighted hyperintensities in the deep cerebral white matter, brainstem, and cerebellar white matter. Serum lactate is increased due to a defect in mitochondrial respiration. There are 2 main phenotypic groups: those with a milder disease course and some recovery of skills after age 2 years, and those with a severe disease course resulting in marked disability (summary by Steenweg et al., 2012). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
Mitochondrial complex 1 deficiency, nuclear type 12
MedGen UID:
1648278
Concept ID:
C4746984
Disease or Syndrome
Mitochondrial complex 1 deficiency, nuclear type 30
MedGen UID:
1648313
Concept ID:
C4746985
Disease or Syndrome
Acyl-CoA dehydrogenase 9 deficiency
MedGen UID:
1648400
Concept ID:
C4747517
Disease or Syndrome
MC1DN20 is an autosomal recessive multisystem disorder characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with a deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts (summary by Haack et al., 2010). For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010.
Mitochondrial complex 1 deficiency, nuclear type 2
MedGen UID:
1648466
Concept ID:
C4748737
Disease or Syndrome
Mitochondrial complex 1 deficiency, nuclear type 4
MedGen UID:
1648324
Concept ID:
C4748753
Disease or Syndrome
Mitochondrial complex 1 deficiency, nuclear type 5
MedGen UID:
1648292
Concept ID:
C4748754
Disease or Syndrome
Mitochondrial complex 1 deficiency, nuclear type 6
MedGen UID:
1648496
Concept ID:
C4748759
Disease or Syndrome
Mitochondrial complex 1 deficiency, nuclear type 7
MedGen UID:
1648484
Concept ID:
C4748760
Disease or Syndrome
Mitochondrial complex 1 deficiency, nuclear type 8
MedGen UID:
1648411
Concept ID:
C4748766
Disease or Syndrome
Mitochondrial complex 1 deficiency, nuclear type 9
MedGen UID:
1648447
Concept ID:
C4748767
Disease or Syndrome
Mitochondrial complex 1 deficiency, nuclear type 10
MedGen UID:
1648426
Concept ID:
C4748768
Disease or Syndrome
Mitochondrial complex 1 deficiency, nuclear type 11
MedGen UID:
1648356
Concept ID:
C4748769
Disease or Syndrome
Mitochondrial complex 1 deficiency, nuclear type 13
MedGen UID:
1648370
Concept ID:
C4748770
Disease or Syndrome
Mitochondrial complex 1 deficiency, nuclear type 14
MedGen UID:
1648440
Concept ID:
C4748777
Disease or Syndrome
Mitochondrial complex 1 deficiency, nuclear type 15
MedGen UID:
1648320
Concept ID:
C4748778
Disease or Syndrome
Mitochondrial complex 1 deficiency, nuclear type 16
MedGen UID:
1648351
Concept ID:
C4748785
Disease or Syndrome
Mitochondrial complex 1 deficiency, nuclear type 17
MedGen UID:
1648418
Concept ID:
C4748786
Disease or Syndrome
Mitochondrial complex 1 deficiency, nuclear type 18
MedGen UID:
1648321
Concept ID:
C4748790
Disease or Syndrome
Mitochondrial complex I deficiency nuclear type 18 (MC1DN18) is an autosomal recessive disorder of the oxidative phosphorylation (OXPHOS) system. Affected individuals present with lactic acidemia soon after birth. Clinical features may include hypertonia or hypotonia, poor feeding, respiratory problems, leukomalacia, and seizures. Death occurs by 6 months of age (Saada et al., 2009). For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010.
Mitochondrial complex 1 deficiency, nuclear type 19
MedGen UID:
1648450
Concept ID:
C4748791
Disease or Syndrome
Mitochondrial complex 1 deficiency, nuclear type 21
MedGen UID:
1648383
Concept ID:
C4748792
Disease or Syndrome
Mitochondrial complex 1 deficiency, nuclear type 22
MedGen UID:
1648347
Concept ID:
C4748796
Disease or Syndrome
Mitochondrial complex 1 deficiency, nuclear type 23
MedGen UID:
1648408
Concept ID:
C4748799
Disease or Syndrome
Mitochondrial complex I deficiency nuclear type 23 (MC1DN23) is an autosomal recessive nuclear-encoded mitochondrial disease with clinical presentations ranging from movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy. MRI findings may include basal ganglia abnormalities or optic atrophy (summary by Magrinelli et al., 2022).
Mitochondrial complex 1 deficiency, nuclear type 24
MedGen UID:
1648364
Concept ID:
C4748803
Disease or Syndrome
Mitochondrial complex 1 deficiency, nuclear type 25
MedGen UID:
1648366
Concept ID:
C4748806
Disease or Syndrome
Mitochondrial complex 1 deficiency, nuclear type 26
MedGen UID:
1648283
Concept ID:
C4748809
Disease or Syndrome
Mitochondrial complex 1 deficiency, nuclear type 27
MedGen UID:
1648481
Concept ID:
C4748826
Disease or Syndrome
Mitochondrial complex 1 deficiency, nuclear type 28
MedGen UID:
1648493
Concept ID:
C4748827
Disease or Syndrome
Mitochondrial complex 1 deficiency, nuclear type 29
MedGen UID:
1648451
Concept ID:
C4748830
Disease or Syndrome
Mitochondrial complex 1 deficiency, nuclear type 31
MedGen UID:
1648395
Concept ID:
C4748838
Disease or Syndrome
Mitochondrial complex 1 deficiency, nuclear type 32
MedGen UID:
1648336
Concept ID:
C4748839
Disease or Syndrome
Mitochondrial complex 1 deficiency, nuclear type 33
MedGen UID:
1648420
Concept ID:
C4748840
Disease or Syndrome
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
MedGen UID:
1682503
Concept ID:
C5191055
Disease or Syndrome
The two forms of deoxyguanosine kinase (DGUOK) deficiency are a neonatal multisystem disorder and an isolated hepatic disorder that presents later in infancy or childhood. The majority of affected individuals have the multisystem illness with hepatic disease (jaundice, cholestasis, hepatomegaly, and elevated transaminases) and neurologic manifestations (hypotonia, nystagmus, and psychomotor retardation) evident within weeks of birth. Those with isolated liver disease may also have renal involvement and some later develop mild hypotonia. Progressive hepatic disease is the most common cause of death in both forms.
Combined oxidative phosphorylation deficiency 38
MedGen UID:
1682102
Concept ID:
C5193064
Disease or Syndrome
Mitochondrial DNA depletion syndrome 17
MedGen UID:
1684823
Concept ID:
C5231412
Disease or Syndrome
Mitochondrial depletion syndrome-17 (MTDPS17) is an autosomal recessive dystonic or movement disorder (summary by Shafique et al., 2023). For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041).
Mitochondrial complex 1 deficiency, nuclear type 34
MedGen UID:
1720533
Concept ID:
C5394053
Disease or Syndrome
Combined oxidative phosphorylation deficiency 40
MedGen UID:
1714731
Concept ID:
C5394232
Disease or Syndrome
Combined oxidative phosphorylation deficiency-40 (COXPD40) is an autosomal recessive mitochondrial disorder with onset in utero or soon after birth. Affected individuals have severe hypertrophic cardiomyopathy, poor growth, and sensorineural hearing loss. Laboratory studies show evidence of mitochondrial dysfunction, such as lactic acidosis. Patient-derived tissues and cells show variably decreased activities of mitochondrial respiratory complexes I, III, IV, and V. The disorder is lethal, with no reported patients surviving past infancy (summary by Friederich et al., 2018). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
Combined oxidative phosphorylation deficiency 42
MedGen UID:
1709379
Concept ID:
C5394237
Disease or Syndrome
Combined oxidative phosphorylation deficiency-42 (COXPD42) is an autosomal recessive metabolic disorder characterized by onset of cardiomyopathy, respiratory insufficiency, lactic metabolic acidosis, and anemia in the first months of life. Patient tissue shows variable impairment of mitochondrial oxidative phosphorylation affecting mtDNA-encoded subunits I, III, and IV. All reported affected infants have died in the first year of life (summary by Friederich et al., 2018). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
Combined oxidative phosphorylation deficiency 43
MedGen UID:
1718250
Concept ID:
C5394284
Disease or Syndrome
Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1
MedGen UID:
1731194
Concept ID:
C5435765
Disease or Syndrome
Mitochondrial form of axonal Charcot-Marie-Tooth disease-1 (CMTMA1) is inherited only through the maternal line. The disorder is characterized by onset of distal muscle weakness and atrophy mainly affecting the lower limbs and resulting in difficulty walking in the second decade of life, although both earlier and later onset can occur. Upper limb involvement often develops with time, and affected individuals have weakness and atrophy of the intrinsic hand muscles. Other features may include distal sensory impairment, foot deformities, scoliosis, hypo- or hyperreflexia, spastic paraparesis, and neurogenic bladder. Electrophysiologic studies are compatible with an axonal sensorimotor peripheral neuropathy, and muscle and nerve biopsy show evidence of mitochondrial dysfunction with decreased activities of respiratory complexes, mtDNA deletions, and mitochondrial hyperplasia (summary by Fay et al., 2020).
Combined oxidative phosphorylation deficiency 45
MedGen UID:
1731010
Concept ID:
C5436461
Disease or Syndrome
Combined oxidative phosphorylation deficiency-45 (COXPD45) is an autosomal recessive multisystem disorder characterized by poor overall growth apparent from infancy, global developmental delay, seizures, and acute progressive neurologic deterioration with loss of skills. Other features may include dysmorphic facies and lesions on brain imaging. Laboratory studies show increased serum lactate and COXPD in patient tissues, consistent with a mitochondrial defect (summary by Serre et al., 2013). For discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
Combined oxidative phosphorylation deficiency 46
MedGen UID:
1752252
Concept ID:
C5436466
Disease or Syndrome
Mitochondrial DNA depletion syndrome 19
MedGen UID:
1770258
Concept ID:
C5436514
Disease or Syndrome
Mitochondrial complex 1 deficiency, nuclear type 35
MedGen UID:
1745427
Concept ID:
C5436576
Disease or Syndrome
Combined oxidative phosphorylation deficiency 48
MedGen UID:
1732052
Concept ID:
C5436602
Disease or Syndrome
Combined oxidative phosphorylation deficiency 49
MedGen UID:
1762338
Concept ID:
C5436616
Disease or Syndrome
Combined oxidative phosphorylation deficiency 51
MedGen UID:
1757992
Concept ID:
C5436703
Disease or Syndrome
Combined oxidative phosphorylation deficiency-51 (COXPD51) is an autosomal recessive disorder characterized by a Leigh syndrome phenotype (see 256000). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
Mitochondrial complex 1 deficiency, nuclear type 36
MedGen UID:
1773965
Concept ID:
C5436935
Disease or Syndrome
Mitochondrial complex I deficiency nuclear type 36 (MC1DN36) is an autosomal recessive metabolic disorder characterized by global developmental delay, hypotonia, and failure to thrive apparent from infancy or early childhood. Affected individuals usually do not acquire ambulation, show progressive spasticity, and have impaired intellectual development with absent speech. More variable features may include pale optic discs, poor eye contact, seizures, and congenital heart defects. Laboratory studies show increased serum lactate; metabolic acidosis may occur during stress or infection. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem, consistent with a clinical diagnosis of Leigh syndrome (see 256000). Patient tissue showed isolated mitochondrial complex I deficiency. Death may occur in childhood (Alahmad et al., 2020). For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010.
Mitochondrial complex 1 deficiency, nuclear type 37
MedGen UID:
1783339
Concept ID:
C5543281
Disease or Syndrome
Combined oxidative phosphorylation deficiency 29
MedGen UID:
1799030
Concept ID:
C5567607
Disease or Syndrome
A rare mitochondrial oxidative phosphorylation disorder with characteristics of microcephaly, global developmental delay, spastic-dystonic movement disorder, intractable seizures, optic atrophy, autonomic dysfunction and peripheral neuropathy. Serum lactate is increased, and muscle biopsy shows decreased activity of mitochondrial respiratory complexes I and III. Brain imaging reveals progressive cerebellar atrophy and delayed myelination.
Combined oxidative phosphorylation defect type 27
MedGen UID:
1799031
Concept ID:
C5567608
Disease or Syndrome
Combined oxidative phosphorylation deficiency-27 (COXPD27) is an autosomal recessive multisystem disorder characterized mainly by neurologic features, including delayed development, seizures, abnormal movements, and neurologic regression. Age at onset, ranging from infancy to late childhood, and severity are variable. Other features include hypotonia, myoclonus, brain imaging abnormalities, and evidence of mitochondrial dysfunction in skeletal muscle. Liver dysfunction has also been reported (summary by Samanta et al., 2018). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
Combined oxidative phosphorylation defect type 26
MedGen UID:
1799164
Concept ID:
C5567741
Disease or Syndrome
Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay (PNSED) is an autosomal recessive multisystemic disorder with highly variable manifestations, even within the same family. Some patients present in infancy with hypotonia and global developmental delay with poor or absent motor skill acquisition and poor growth, whereas others present as young adults with exercise intolerance and muscle weakness. All patients have signs of a peripheral neuropathy, usually demyelinating, with distal muscle weakness and atrophy and distal sensory impairment; many become wheelchair-bound. Additional features include spasticity, extensor plantar responses, contractures, cerebellar signs, seizures, short stature, and rare involvement of other organ systems, including the heart, pancreas, and kidney. Biochemical analysis may show deficiencies in mitochondrial respiratory complex enzyme activities in patient tissue, although this is not always apparent. Lactate is frequently increased, suggesting mitochondrial dysfunction (Powell et al., 2015; Argente-Escrig et al., 2022). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
Combined oxidative phosphorylation defect type 23
MedGen UID:
1799166
Concept ID:
C5567743
Disease or Syndrome
Combined oxidative phosphorylation deficiency-23 (COXPD23) is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by Kopajtich et al., 2014). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
Combined oxidative phosphorylation deficiency 28
MedGen UID:
1800504
Concept ID:
C5569081
Disease or Syndrome
Combined oxidative phosphorylation deficiency-28 (COXPD28) is a complex autosomal recessive multisystem disorder associated with mitochondrial dysfunction. The phenotype is variable, but includes episodic metabolic decompensation beginning in infancy that can result in mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death. Biochemical studies of patient tissues show variable mitochondrial defects, including decreased activities of respiratory chain enzymes (summary by Kishita et al., 2015). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
Mitochondrial complex I deficiency, nuclear type 39
MedGen UID:
1824031
Concept ID:
C5774258
Disease or Syndrome
Mitochondrial complex I deficiency nuclear type 39 (MC1DN39) is an autosomal recessive nuclear disorder of mitochondrial respiratory chain complex I characterized by intrauterine growth retardation and anemia and postpartum hypertrophic cardiomyopathy, lactic acidosis, encephalopathy, and a severe complex I defect with a fatal outcome (Correia et al., 2021)
Combined oxidative phosphorylation deficiency 57
MedGen UID:
1824048
Concept ID:
C5774275
Disease or Syndrome
Combined oxidative phosphorylation deficiency-57 (COXPD57) is an autosomal recessive multisystem mitochondrial disease with varying degrees of severity from premature death in infancy to permanent disability in young adulthood (Lee et al., 2022). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
Congenital myopathy 22A, classic
MedGen UID:
1841089
Concept ID:
C5830453
Disease or Syndrome
Classic congenital myopathy-22A (CMYP22A) is an autosomal recessive muscle disorder characterized by onset of muscle weakness in utero or soon after birth. Early features may include fetal hypokinesia, breech presentation, and polyhydramnios. Affected individuals are born with severe hypotonia and require respiratory and feeding assistance. Those who survive the neonatal period show a 'classic' phenotype of congenital myopathy with delayed motor development, difficulty walking, proximal muscle weakness of the upper and lower limbs, facial and neck muscle weakness, easy fatigability, and mild limb contractures or foot deformities. Some have persistent respiratory insufficiency; dysmorphic facial features may be present (Zaharieva et al., 2016). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).
Combined oxidative phosphorylation deficiency 58
MedGen UID:
1841277
Concept ID:
C5830641
Disease or Syndrome
Combined oxidative phosphorylation deficiency-58 (COXPD58) is an autosomal recessive disorder characterized by a wide range of clinical presentations including neonatal lactic acidosis, epileptic encephalopathy, developmental delay and impaired intellectual development with nonspecific changes on brain MRI, or mitochondrial myopathy with a treatable neuromuscular transmission defect (Van Haute et al., 2023). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).

Professional guidelines

PubMed

Kanabus M, Fassone E, Hughes SD, Bilooei SF, Rutherford T, Donnell MO, Heales SJR, Rahman S
J Inherit Metab Dis 2016 May;39(3):415-426. Epub 2016 Apr 14 doi: 10.1007/s10545-016-9930-4. PMID: 27080638Free PMC Article
Gaspar R, Santana I, Mendes C, Fernandes AS, Duro D, Simões M, Luís D, Santos MJ, Grazina M
Neurodegener Dis 2015;15(2):70-80. Epub 2015 Apr 3 doi: 10.1159/000380766. PMID: 25871488

Recent clinical studies

Etiology

Hooshangi Shayesteh MR, Haghi-Aminjan H, Baeeri M, Rahimifard M, Hassani S, Gholami M, Momtaz S, Salami SA, Armandeh M, Bameri B, Samadi M, Mousavi T, Ostad SN, Abdollahi M
Toxicol Mech Methods 2022 May;32(4):288-301. Epub 2021 Nov 24 doi: 10.1080/15376516.2021.1998851. PMID: 34711111
Tian L, Zhu C, Yang H, Li Y, Liu Y
Oxid Med Cell Longev 2021;2021:4728714. Epub 2021 Jul 20 doi: 10.1155/2021/4728714. PMID: 34336093Free PMC Article
Danhelovska T, Kolarova H, Zeman J, Hansikova H, Vaneckova M, Lambert L, Kucerova-Vidrova V, Berankova K, Honzik T, Tesarova M
BMC Pediatr 2020 Jan 29;20(1):41. doi: 10.1186/s12887-020-1912-x. PMID: 31996177Free PMC Article
Choumar A, Tarhuni A, Lettéron P, Reyl-Desmars F, Dauhoo N, Damasse J, Vadrot N, Nahon P, Moreau R, Pessayre D, Mansouri A
Antioxid Redox Signal 2011 Dec 1;15(11):2837-54. Epub 2011 Jul 18 doi: 10.1089/ars.2010.3713. PMID: 21767162
Mena NP, Bulteau AL, Salazar J, Hirsch EC, Núñez MT
Biochem Biophys Res Commun 2011 Jun 3;409(2):241-6. Epub 2011 May 6 doi: 10.1016/j.bbrc.2011.04.137. PMID: 21570952

Diagnosis

Yang L, Pang X, Guo W, Zhu C, Yu L, Song X, Wang K, Pang C
Int J Mol Sci 2023 Jun 14;24(12) doi: 10.3390/ijms241210111. PMID: 37373264Free PMC Article
Ji Y, Zhang J, Lu Y, Yi Q, Chen M, Xie S, Mao X, Xiao Y, Meng F, Zhang M, Yang R, Guan MX
J Biol Chem 2020 Sep 18;295(38):13224-13238. Epub 2020 Jul 28 doi: 10.1074/jbc.RA120.014603. PMID: 32723871Free PMC Article
Danhelovska T, Kolarova H, Zeman J, Hansikova H, Vaneckova M, Lambert L, Kucerova-Vidrova V, Berankova K, Honzik T, Tesarova M
BMC Pediatr 2020 Jan 29;20(1):41. doi: 10.1186/s12887-020-1912-x. PMID: 31996177Free PMC Article
Valdez LB, Zaobornyj T, Bandez MJ, López-Cepero JM, Boveris A, Navarro A
Free Radic Biol Med 2019 May 1;135:274-282. Epub 2019 Mar 9 doi: 10.1016/j.freeradbiomed.2019.03.001. PMID: 30862545
Hernandez-Mijares A, Rocha M, Apostolova N, Borras C, Jover A, Bañuls C, Sola E, Victor VM
Free Radic Biol Med 2011 May 15;50(10):1215-21. Epub 2011 Jan 22 doi: 10.1016/j.freeradbiomed.2011.01.019. PMID: 21262346

Therapy

Kang BG, Shende M, Inci G, Park SH, Jung JS, Kim SB, Kim JH, Mo YW, Seo JH, Feng JH, Kim SC, Lim SS, Suh HW, Lee JY
Cancer Biol Ther 2023 Dec 31;24(1):20-32. doi: 10.1080/15384047.2022.2161803. PMID: 36588385Free PMC Article
Hébert A, Parisotto M, Rowell MC, Doré A, Fernandez Ruiz A, Lefrançois G, Kalegari P, Ferbeyre G, Schmitzer AR
Sci Rep 2021 May 10;11(1):9854. doi: 10.1038/s41598-021-87993-3. PMID: 33972583Free PMC Article
Umapathi P, Mesubi OO, Banerjee PS, Abrol N, Wang Q, Luczak ED, Wu Y, Granger JM, Wei AC, Reyes Gaido OE, Florea L, Talbot CC Jr, Hart GW, Zachara NE, Anderson ME
Circulation 2021 Apr 27;143(17):1687-1703. Epub 2021 Feb 17 doi: 10.1161/CIRCULATIONAHA.120.051911. PMID: 33593071Free PMC Article
Cantó C, Houtkooper RH, Pirinen E, Youn DY, Oosterveer MH, Cen Y, Fernandez-Marcos PJ, Yamamoto H, Andreux PA, Cettour-Rose P, Gademann K, Rinsch C, Schoonjans K, Sauve AA, Auwerx J
Cell Metab 2012 Jun 6;15(6):838-47. doi: 10.1016/j.cmet.2012.04.022. PMID: 22682224Free PMC Article
Marella M, Seo BB, Yagi T, Matsuno-Yagi A
J Bioenerg Biomembr 2009 Dec;41(6):493-7. doi: 10.1007/s10863-009-9249-z. PMID: 19904590Free PMC Article

Prognosis

Shi Y, Wang Y, Jiang H, Sun X, Xu H, Wei X, Wei Y, Xiao G, Song Z, Zhou F
Cell Death Dis 2021 Sep 6;12(9):837. doi: 10.1038/s41419-021-03984-2. PMID: 34489398Free PMC Article
Danhelovska T, Kolarova H, Zeman J, Hansikova H, Vaneckova M, Lambert L, Kucerova-Vidrova V, Berankova K, Honzik T, Tesarova M
BMC Pediatr 2020 Jan 29;20(1):41. doi: 10.1186/s12887-020-1912-x. PMID: 31996177Free PMC Article
Nie H, Yu X, He H, Zhou L, Li Q, Song C, Wang D, Ren T, Chen Z, Huang H, Dai X, Zhou Y
J Cell Mol Med 2018 Dec;22(12):6285-6293. Epub 2018 Oct 16 doi: 10.1111/jcmm.13918. PMID: 30324697Free PMC Article
Keuper M, Sachs S, Walheim E, Berti L, Raedle B, Tews D, Fischer-Posovszky P, Wabitsch M, Hrabě de Angelis M, Kastenmüller G, Tschöp MH, Jastroch M, Staiger H, Hofmann SM
Mol Metab 2017 Oct;6(10):1226-1239. Epub 2017 Jul 19 doi: 10.1016/j.molmet.2017.07.008. PMID: 29031722Free PMC Article
Willems PH, Valsecchi F, Distelmaier F, Verkaart S, Visch HJ, Smeitink JA, Koopman WJ
Cell Calcium 2008 Jul;44(1):123-33. Epub 2008 Mar 4 doi: 10.1016/j.ceca.2008.01.002. PMID: 18295330

Clinical prediction guides

Xiong QW, Jiang K, Shen XW, Ma ZR, Yan XM, Xia H, Cao X
Cell Death Dis 2024 Apr 9;15(4):253. doi: 10.1038/s41419-024-06636-3. PMID: 38594244Free PMC Article
Wang P, Deng J, Dong J, Liu J, Bigio EH, Mesulam M, Wang T, Sun L, Wang L, Lee AY, McGee WA, Chen X, Fushimi K, Zhu L, Wu JY
PLoS Genet 2019 May;15(5):e1007947. Epub 2019 May 17 doi: 10.1371/journal.pgen.1007947. PMID: 31100073Free PMC Article
Valdez LB, Zaobornyj T, Bandez MJ, López-Cepero JM, Boveris A, Navarro A
Free Radic Biol Med 2019 May 1;135:274-282. Epub 2019 Mar 9 doi: 10.1016/j.freeradbiomed.2019.03.001. PMID: 30862545
Kang PT, Chen CL, Lin P, Zhang L, Zweier JL, Chen YR
J Mol Cell Cardiol 2018 Aug;121:190-204. Epub 2018 Jul 20 doi: 10.1016/j.yjmcc.2018.07.244. PMID: 30031815Free PMC Article
He X, Zhou A, Lu H, Chen Y, Huang G, Yue X, Zhao P, Wu Y
PLoS One 2013;8(4):e61677. Epub 2013 Apr 22 doi: 10.1371/journal.pone.0061677. PMID: 23630608Free PMC Article

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