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Methylmalonic acidemia(MMA)

MedGen UID:
120654
Concept ID:
C0268583
Disease or Syndrome
Synonyms: Isolated Methylmalonic Acidemia; MMA
SNOMED CT: MMA - Methylmalonic aciduria (42393006); Methylmalonic acidemia (42393006)
 
Related genes: MMAB, MMAA, MCEE, MMADHC, MMUT
 
HPO: HP:0002912
Monarch Initiative: MONDO:0002012

Disease characteristics

Excerpted from the GeneReview: Isolated Methylmalonic Acidemia
For this GeneReview, the term "isolated methylmalonic acidemia" refers to a group of inborn errors of metabolism associated with elevated methylmalonic acid (MMA) concentration in the blood and urine that result from the failure to isomerize (convert) methylmalonyl-coenzyme A (CoA) into succinyl-CoA during propionyl-CoA metabolism in the mitochondrial matrix, without hyperhomocysteinemia or homocystinuria, hypomethioninemia, or variations in other metabolites, such as malonic acid. Isolated MMA is caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut– enzymatic subtype, respectively), a defect in the transport or synthesis of its cofactor, 5-deoxy-adenosyl-cobalamin (cblA, cblB, or cblD-MMA), or deficiency of the enzyme methylmalonyl-CoA epimerase. Prior to the advent of newborn screening, common phenotypes included: Infantile/non-B12-responsive form (mut0 enzymatic subtype, cblB), the most common phenotype, associated with infantile-onset lethargy, tachypnea, hypothermia, vomiting, and dehydration on initiation of protein-containing feeds. Without appropriate treatment, the infantile/non-B12-responsive phenotype could rapidly progress to coma due to hyperammonemic encephalopathy. Partially deficient or B12-responsive phenotypes (mut– enzymatic subtype, cblA, cblB [rare], cblD-MMA), in which symptoms occur in the first few months or years of life and are characterized by feeding problems, failure to thrive, hypotonia, and developmental delay marked by episodes of metabolic decompensation. Methylmalonyl-CoA epimerase deficiency, in which findings range from complete absence of symptoms to severe metabolic acidosis. Affected individuals can also develop ataxia, dysarthria, hypotonia, mild spastic paraparesis, and seizures. In those individuals diagnosed by newborn screening and treated from an early age, there appears to be decreased early mortality, less severe symptoms at diagnosis, favorable short-term neurodevelopmental outcome, and lower incidence of movement disorders and irreversible cerebral damage. However, secondary complications may still occur and can include intellectual disability, tubulointerstitial nephritis with progressive impairment of renal function, "metabolic stroke" (bilateral lacunar infarction of the basal ganglia during acute metabolic decompensation), pancreatitis, growth failure, functional immune impairment, bone marrow failure, optic nerve atrophy, arrhythmias and/or cardiomyopathy (dilated or hypertrophic), liver steatosis/fibrosis/cancer, and renal cancer. [from GeneReviews]
Authors:
Irini Manoli  |  Jennifer L Sloan  |  Charles P Venditti   view full author information

Additional description

From MedlinePlus Genetics
Methylmalonic acidemia is a group of inherited disorders that prevent the body from breaking down proteins and fats (lipids) properly. The effects of methylmalonic acidemia, which usually appear in early infancy, vary from mild to life-threatening. Affected infants can experience vomiting, dehydration, weak muscle tone (hypotonia), developmental delays, excessive tiredness (lethargy), an enlarged liver (hepatomegaly), and failure to gain weight and grow at the expected rate (failure to thrive). Long-term complications can include feeding problems, intellectual disabilities, movement problems, chronic kidney disease, and inflammation of the pancreas (pancreatitis). People with methylmalonic acidemia can have frequent episodes of excess acid in the blood (metabolic acidosis) that cause serious health complications.Without treatment, this disorder can lead to coma and death in some cases.  https://medlineplus.gov/genetics/condition/methylmalonic-acidemia

Term Hierarchy

Conditions with this feature

Methylmalonic acidemia with homocystinuria, type cblX
MedGen UID:
167111
Concept ID:
C0796208
Disease or Syndrome
Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. The prototype and best understood phenotype is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range: In utero with fetal presentation of nonimmune hydrops, cardiomyopathy, and intrauterine growth restriction. Newborns, who can have microcephaly, poor feeding, and encephalopathy. Infants, who can have poor feeding and slow growth, neurologic abnormality, and, rarely, hemolytic uremic syndrome (HUS). Toddlers, who can have poor growth, progressive microcephaly, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures. Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, thromboembolic complications, and/or subacute combined degeneration of the spinal cord.
Methylmalonic aciduria and homocystinuria type cblD
MedGen UID:
341253
Concept ID:
C1848552
Disease or Syndrome
Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. The prototype and best understood phenotype is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range: In utero with fetal presentation of nonimmune hydrops, cardiomyopathy, and intrauterine growth restriction. Newborns, who can have microcephaly, poor feeding, and encephalopathy. Infants, who can have poor feeding and slow growth, neurologic abnormality, and, rarely, hemolytic uremic syndrome (HUS). Toddlers, who can have poor growth, progressive microcephaly, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures. Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, thromboembolic complications, and/or subacute combined degeneration of the spinal cord.
Cobalamin C disease
MedGen UID:
341256
Concept ID:
C1848561
Disease or Syndrome
Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. The prototype and best understood phenotype is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range: In utero with fetal presentation of nonimmune hydrops, cardiomyopathy, and intrauterine growth restriction. Newborns, who can have microcephaly, poor feeding, and encephalopathy. Infants, who can have poor feeding and slow growth, neurologic abnormality, and, rarely, hemolytic uremic syndrome (HUS). Toddlers, who can have poor growth, progressive microcephaly, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures. Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, thromboembolic complications, and/or subacute combined degeneration of the spinal cord.
Methylmalonic aciduria and homocystinuria type cblF
MedGen UID:
336373
Concept ID:
C1848578
Disease or Syndrome
Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. The prototype and best understood phenotype is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range: In utero with fetal presentation of nonimmune hydrops, cardiomyopathy, and intrauterine growth restriction. Newborns, who can have microcephaly, poor feeding, and encephalopathy. Infants, who can have poor feeding and slow growth, neurologic abnormality, and, rarely, hemolytic uremic syndrome (HUS). Toddlers, who can have poor growth, progressive microcephaly, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures. Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, thromboembolic complications, and/or subacute combined degeneration of the spinal cord.
Methylmalonic aciduria, cblB type
MedGen UID:
344420
Concept ID:
C1855102
Disease or Syndrome
For this GeneReview, the term "isolated methylmalonic acidemia" refers to a group of inborn errors of metabolism associated with elevated methylmalonic acid (MMA) concentration in the blood and urine that result from the failure to isomerize (convert) methylmalonyl-coenzyme A (CoA) into succinyl-CoA during propionyl-CoA metabolism in the mitochondrial matrix, without hyperhomocysteinemia or homocystinuria, hypomethioninemia, or variations in other metabolites, such as malonic acid. Isolated MMA is caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut– enzymatic subtype, respectively), a defect in the transport or synthesis of its cofactor, 5-deoxy-adenosyl-cobalamin (cblA, cblB, or cblD-MMA), or deficiency of the enzyme methylmalonyl-CoA epimerase. Prior to the advent of newborn screening, common phenotypes included: Infantile/non-B12-responsive form (mut0 enzymatic subtype, cblB), the most common phenotype, associated with infantile-onset lethargy, tachypnea, hypothermia, vomiting, and dehydration on initiation of protein-containing feeds. Without appropriate treatment, the infantile/non-B12-responsive phenotype could rapidly progress to coma due to hyperammonemic encephalopathy. Partially deficient or B12-responsive phenotypes (mut– enzymatic subtype, cblA, cblB [rare], cblD-MMA), in which symptoms occur in the first few months or years of life and are characterized by feeding problems, failure to thrive, hypotonia, and developmental delay marked by episodes of metabolic decompensation. Methylmalonyl-CoA epimerase deficiency, in which findings range from complete absence of symptoms to severe metabolic acidosis. Affected individuals can also develop ataxia, dysarthria, hypotonia, mild spastic paraparesis, and seizures. In those individuals diagnosed by newborn screening and treated from an early age, there appears to be decreased early mortality, less severe symptoms at diagnosis, favorable short-term neurodevelopmental outcome, and lower incidence of movement disorders and irreversible cerebral damage. However, secondary complications may still occur and can include intellectual disability, tubulointerstitial nephritis with progressive impairment of renal function, "metabolic stroke" (bilateral lacunar infarction of the basal ganglia during acute metabolic decompensation), pancreatitis, growth failure, functional immune impairment, bone marrow failure, optic nerve atrophy, arrhythmias and/or cardiomyopathy (dilated or hypertrophic), liver steatosis/fibrosis/cancer, and renal cancer.
Methylmalonic aciduria, cblA type
MedGen UID:
344422
Concept ID:
C1855109
Disease or Syndrome
For this GeneReview, the term "isolated methylmalonic acidemia" refers to a group of inborn errors of metabolism associated with elevated methylmalonic acid (MMA) concentration in the blood and urine that result from the failure to isomerize (convert) methylmalonyl-coenzyme A (CoA) into succinyl-CoA during propionyl-CoA metabolism in the mitochondrial matrix, without hyperhomocysteinemia or homocystinuria, hypomethioninemia, or variations in other metabolites, such as malonic acid. Isolated MMA is caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut– enzymatic subtype, respectively), a defect in the transport or synthesis of its cofactor, 5-deoxy-adenosyl-cobalamin (cblA, cblB, or cblD-MMA), or deficiency of the enzyme methylmalonyl-CoA epimerase. Prior to the advent of newborn screening, common phenotypes included: Infantile/non-B12-responsive form (mut0 enzymatic subtype, cblB), the most common phenotype, associated with infantile-onset lethargy, tachypnea, hypothermia, vomiting, and dehydration on initiation of protein-containing feeds. Without appropriate treatment, the infantile/non-B12-responsive phenotype could rapidly progress to coma due to hyperammonemic encephalopathy. Partially deficient or B12-responsive phenotypes (mut– enzymatic subtype, cblA, cblB [rare], cblD-MMA), in which symptoms occur in the first few months or years of life and are characterized by feeding problems, failure to thrive, hypotonia, and developmental delay marked by episodes of metabolic decompensation. Methylmalonyl-CoA epimerase deficiency, in which findings range from complete absence of symptoms to severe metabolic acidosis. Affected individuals can also develop ataxia, dysarthria, hypotonia, mild spastic paraparesis, and seizures. In those individuals diagnosed by newborn screening and treated from an early age, there appears to be decreased early mortality, less severe symptoms at diagnosis, favorable short-term neurodevelopmental outcome, and lower incidence of movement disorders and irreversible cerebral damage. However, secondary complications may still occur and can include intellectual disability, tubulointerstitial nephritis with progressive impairment of renal function, "metabolic stroke" (bilateral lacunar infarction of the basal ganglia during acute metabolic decompensation), pancreatitis, growth failure, functional immune impairment, bone marrow failure, optic nerve atrophy, arrhythmias and/or cardiomyopathy (dilated or hypertrophic), liver steatosis/fibrosis/cancer, and renal cancer.
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
MedGen UID:
344424
Concept ID:
C1855114
Disease or Syndrome
For this GeneReview, the term "isolated methylmalonic acidemia" refers to a group of inborn errors of metabolism associated with elevated methylmalonic acid (MMA) concentration in the blood and urine that result from the failure to isomerize (convert) methylmalonyl-coenzyme A (CoA) into succinyl-CoA during propionyl-CoA metabolism in the mitochondrial matrix, without hyperhomocysteinemia or homocystinuria, hypomethioninemia, or variations in other metabolites, such as malonic acid. Isolated MMA is caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut– enzymatic subtype, respectively), a defect in the transport or synthesis of its cofactor, 5-deoxy-adenosyl-cobalamin (cblA, cblB, or cblD-MMA), or deficiency of the enzyme methylmalonyl-CoA epimerase. Prior to the advent of newborn screening, common phenotypes included: Infantile/non-B12-responsive form (mut0 enzymatic subtype, cblB), the most common phenotype, associated with infantile-onset lethargy, tachypnea, hypothermia, vomiting, and dehydration on initiation of protein-containing feeds. Without appropriate treatment, the infantile/non-B12-responsive phenotype could rapidly progress to coma due to hyperammonemic encephalopathy. Partially deficient or B12-responsive phenotypes (mut– enzymatic subtype, cblA, cblB [rare], cblD-MMA), in which symptoms occur in the first few months or years of life and are characterized by feeding problems, failure to thrive, hypotonia, and developmental delay marked by episodes of metabolic decompensation. Methylmalonyl-CoA epimerase deficiency, in which findings range from complete absence of symptoms to severe metabolic acidosis. Affected individuals can also develop ataxia, dysarthria, hypotonia, mild spastic paraparesis, and seizures. In those individuals diagnosed by newborn screening and treated from an early age, there appears to be decreased early mortality, less severe symptoms at diagnosis, favorable short-term neurodevelopmental outcome, and lower incidence of movement disorders and irreversible cerebral damage. However, secondary complications may still occur and can include intellectual disability, tubulointerstitial nephritis with progressive impairment of renal function, "metabolic stroke" (bilateral lacunar infarction of the basal ganglia during acute metabolic decompensation), pancreatitis, growth failure, functional immune impairment, bone marrow failure, optic nerve atrophy, arrhythmias and/or cardiomyopathy (dilated or hypertrophic), liver steatosis/fibrosis/cancer, and renal cancer.
Methylcobalamin deficiency type cblE
MedGen UID:
344640
Concept ID:
C1856057
Disease or Syndrome
Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. The prototype and best understood phenotype is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range: In utero with fetal presentation of nonimmune hydrops, cardiomyopathy, and intrauterine growth restriction. Newborns, who can have microcephaly, poor feeding, and encephalopathy. Infants, who can have poor feeding and slow growth, neurologic abnormality, and, rarely, hemolytic uremic syndrome (HUS). Toddlers, who can have poor growth, progressive microcephaly, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures. Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, thromboembolic complications, and/or subacute combined degeneration of the spinal cord.
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
MedGen UID:
413170
Concept ID:
C2749864
Disease or Syndrome
SUCLA2-related mitochondrial DNA (mtDNA) depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized by onset of the following features in infancy or childhood (median age of onset 2 months; range of onset birth to 6 years): psychomotor retardation, hypotonia, dystonia, muscular atrophy, sensorineural hearing impairment, postnatal growth retardation, and feeding difficulties. Other less frequent features include distinctive facial features, contractures, kyphoscoliosis, gastroesophageal reflux, ptosis, choreoathetosis, ophthalmoplegia, and epilepsy (infantile spasms or generalized convulsions). The median survival is 20 years; approximately 30% of affected individuals succumb during childhood. Affected individuals may have hyperintensities in the basal ganglia, cerebral atrophy, and leukoencephalopathy on head MRI. Elevation of methylmalonic acid (MMA) in the urine and plasma is found in a vast majority of affected individuals, although at levels that are far below those typically seen in individuals with classic methylmalonic aciduria.
Methylmalonate semialdehyde dehydrogenase deficiency
MedGen UID:
481470
Concept ID:
C3279840
Disease or Syndrome
Methylmalonate semialdehyde dehydrogenase deficiency is a rare autosomal recessive inborn error of metabolism with a highly variable phenotype. Some patients may be asymptomatic, whereas others show global developmental delay, nonspecific dysmorphic features, and delayed myelination on brain imaging. Laboratory studies typically show increased urinary 3-hydroxyisobutyric acid, although additional metabolic abnormalities may also be observed (summary by Marcadier et al., 2013).
Methylmalonic acidemia with homocystinuria, type cblJ
MedGen UID:
766829
Concept ID:
C3553915
Disease or Syndrome
Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous metabolic disorder of cobalamin (cbl; vitamin B12) metabolism, which is essential for hematologic and neurologic function. Biochemically, the defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT; 609058) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR; 156570). The cblJ type is phenotypically and biochemically similar to the cblF type (MAHCF; 277380) (summary by Coelho et al., 2012).
Methylmalonic acidemia due to transcobalamin receptor defect
MedGen UID:
1670056
Concept ID:
C4749905
Disease or Syndrome
A rare metabolite absorption and transport disorder with characteristics of moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however; screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported. Caused by mutation in the gene encoding the transcobalamin receptor (CD320).

Professional guidelines

PubMed

Huang X, Wu D, Zhu L, Wang W, Yang R, Yang J, He Q, Zhu B, You Y, Xiao R, Zhao Z
Orphanet J Rare Dis 2022 Feb 21;17(1):66. doi: 10.1186/s13023-022-02231-x. PMID: 35193651Free PMC Article
An D, Schneller JL, Frassetto A, Liang S, Zhu X, Park JS, Theisen M, Hong SJ, Zhou J, Rajendran R, Levy B, Howell R, Besin G, Presnyak V, Sabnis S, Murphy-Benenato KE, Kumarasinghe ES, Salerno T, Mihai C, Lukacs CM, Chandler RJ, Guey LT, Venditti CP, Martini PGV
Cell Rep 2017 Dec 19;21(12):3548-3558. doi: 10.1016/j.celrep.2017.11.081. PMID: 29262333Free PMC Article
Fraser JL, Venditti CP
Curr Opin Pediatr 2016 Dec;28(6):682-693. doi: 10.1097/MOP.0000000000000422. PMID: 27653704Free PMC Article

Curated

American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C3 Acylcarnitine, Propionic Acidemia (PA) and Methylmalonic Acidemia (MMA), 2022

Recent clinical studies

Etiology

Vockley J, Burton B, Jurecka A, Ganju J, Leiro B, Zori R, Longo N
Mol Genet Metab 2023 Jul;139(3):107612. Epub 2023 May 21 doi: 10.1016/j.ymgme.2023.107612. PMID: 37245378
Manoli I, Gebremariam A, McCoy S, Pass AR, Gagné J, Hall C, Ferry S, Van Ryzin C, Sloan JL, Sacchetti E, Catesini G, Rizzo C, Martinelli D, Spada M, Dionisi-Vici C, Venditti CP
J Inherit Metab Dis 2023 Jul;46(4):554-572. Epub 2023 Jun 6 doi: 10.1002/jimd.12636. PMID: 37243446Free PMC Article
Chakrapani A, Stojanovic J, Vara R, De Nictolis F, Spada M, Dionisi-Vici C
J Inherit Metab Dis 2023 May;46(3):466-481. Epub 2023 Apr 24 doi: 10.1002/jimd.12613. PMID: 37067856
Huang X, Wu D, Zhu L, Wang W, Yang R, Yang J, He Q, Zhu B, You Y, Xiao R, Zhao Z
Orphanet J Rare Dis 2022 Feb 21;17(1):66. doi: 10.1186/s13023-022-02231-x. PMID: 35193651Free PMC Article
Yu Y, Shuai R, Liang L, Qiu W, Shen L, Wu S, Wei H, Chen Y, Yang C, Xu P, Chen X, Zou H, Feng J, Niu T, Hu H, Ye J, Zhang H, Lu D, Gong Z, Zhan X, Ji W, Gu X, Han L
Mol Genet Genomic Med 2021 Nov;9(11):e1822. Epub 2021 Oct 20 doi: 10.1002/mgg3.1822. PMID: 34668645Free PMC Article

Diagnosis

Chakrapani A, Stojanovic J, Vara R, De Nictolis F, Spada M, Dionisi-Vici C
J Inherit Metab Dis 2023 May;46(3):466-481. Epub 2023 Apr 24 doi: 10.1002/jimd.12613. PMID: 37067856
Hu S, Kong X
Taiwan J Obstet Gynecol 2022 Mar;61(2):290-298. doi: 10.1016/j.tjog.2022.02.017. PMID: 35361390
Forny P, Hörster F, Ballhausen D, Chakrapani A, Chapman KA, Dionisi-Vici C, Dixon M, Grünert SC, Grunewald S, Haliloglu G, Hochuli M, Honzik T, Karall D, Martinelli D, Molema F, Sass JO, Scholl-Bürgi S, Tal G, Williams M, Huemer M, Baumgartner MR
J Inherit Metab Dis 2021 May;44(3):566-592. Epub 2021 Mar 9 doi: 10.1002/jimd.12370. PMID: 33595124Free PMC Article
Mahmud S, Awais Ul Hassan Shah S, Ali S
J Coll Physicians Surg Pak 2015 Jun;25(6):462-4. PMID: 26101005
Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A
Orphanet J Rare Dis 2014 Sep 2;9:130. doi: 10.1186/s13023-014-0130-8. PMID: 25205257Free PMC Article

Therapy

Vockley J, Burton B, Jurecka A, Ganju J, Leiro B, Zori R, Longo N
Mol Genet Metab 2023 Jul;139(3):107612. Epub 2023 May 21 doi: 10.1016/j.ymgme.2023.107612. PMID: 37245378
Manoli I, Gebremariam A, McCoy S, Pass AR, Gagné J, Hall C, Ferry S, Van Ryzin C, Sloan JL, Sacchetti E, Catesini G, Rizzo C, Martinelli D, Spada M, Dionisi-Vici C, Venditti CP
J Inherit Metab Dis 2023 Jul;46(4):554-572. Epub 2023 Jun 6 doi: 10.1002/jimd.12636. PMID: 37243446Free PMC Article
Yu Y, Shuai R, Liang L, Qiu W, Shen L, Wu S, Wei H, Chen Y, Yang C, Xu P, Chen X, Zou H, Feng J, Niu T, Hu H, Ye J, Zhang H, Lu D, Gong Z, Zhan X, Ji W, Gu X, Han L
Mol Genet Genomic Med 2021 Nov;9(11):e1822. Epub 2021 Oct 20 doi: 10.1002/mgg3.1822. PMID: 34668645Free PMC Article
Chandler RJ, Venditti CP
Hum Gene Ther 2019 Oct;30(10):1236-1244. Epub 2019 Aug 16 doi: 10.1089/hum.2019.113. PMID: 31303064Free PMC Article
An D, Schneller JL, Frassetto A, Liang S, Zhu X, Park JS, Theisen M, Hong SJ, Zhou J, Rajendran R, Levy B, Howell R, Besin G, Presnyak V, Sabnis S, Murphy-Benenato KE, Kumarasinghe ES, Salerno T, Mihai C, Lukacs CM, Chandler RJ, Guey LT, Venditti CP, Martini PGV
Cell Rep 2017 Dec 19;21(12):3548-3558. doi: 10.1016/j.celrep.2017.11.081. PMID: 29262333Free PMC Article

Prognosis

Ding S, Ling S, Liang L, Qiu W, Zhang H, Chen T, Zhan X, Xu F, Gu X, Han L
Orphanet J Rare Dis 2023 Sep 28;18(1):306. doi: 10.1186/s13023-023-02890-4. PMID: 37770946Free PMC Article
Manoli I, Gebremariam A, McCoy S, Pass AR, Gagné J, Hall C, Ferry S, Van Ryzin C, Sloan JL, Sacchetti E, Catesini G, Rizzo C, Martinelli D, Spada M, Dionisi-Vici C, Venditti CP
J Inherit Metab Dis 2023 Jul;46(4):554-572. Epub 2023 Jun 6 doi: 10.1002/jimd.12636. PMID: 37243446Free PMC Article
Dao M, Arnoux JB, Bienaimé F, Brassier A, Brazier F, Benoist JF, Pontoizeau C, Ottolenghi C, Krug P, Boyer O, de Lonlay P, Servais A
Orphanet J Rare Dis 2021 May 13;16(1):220. doi: 10.1186/s13023-021-01851-z. PMID: 33985557Free PMC Article
Pillai NR, Stroup BM, Poliner A, Rossetti L, Rawls B, Shayota BJ, Soler-Alfonso C, Tunuguntala HP, Goss J, Craigen W, Scaglia F, Sutton VR, Himes RW, Burrage LC
Mol Genet Metab 2019 Dec;128(4):431-443. Epub 2019 Nov 7 doi: 10.1016/j.ymgme.2019.11.001. PMID: 31757659Free PMC Article
Mahmud S, Awais Ul Hassan Shah S, Ali S
J Coll Physicians Surg Pak 2015 Jun;25(6):462-4. PMID: 26101005

Clinical prediction guides

Ding S, Ling S, Liang L, Qiu W, Zhang H, Chen T, Zhan X, Xu F, Gu X, Han L
Orphanet J Rare Dis 2023 Sep 28;18(1):306. doi: 10.1186/s13023-023-02890-4. PMID: 37770946Free PMC Article
Manoli I, Gebremariam A, McCoy S, Pass AR, Gagné J, Hall C, Ferry S, Van Ryzin C, Sloan JL, Sacchetti E, Catesini G, Rizzo C, Martinelli D, Spada M, Dionisi-Vici C, Venditti CP
J Inherit Metab Dis 2023 Jul;46(4):554-572. Epub 2023 Jun 6 doi: 10.1002/jimd.12636. PMID: 37243446Free PMC Article
Head PE, Meier JL, Venditti CP
J Inherit Metab Dis 2023 May;46(3):436-449. doi: 10.1002/jimd.12617. PMID: 37078237Free PMC Article
Martinelli D, Catesini G, Greco B, Guarnera A, Parrillo C, Maines E, Longo D, Napolitano A, De Nictolis F, Cairoli S, Liccardo D, Caviglia S, Sidorina A, Olivieri G, Siri B, Bianchi R, Spagnoletti G, Dello Strologo L, Spada M, Dionisi-Vici C
J Inherit Metab Dis 2023 May;46(3):450-465. Epub 2023 Mar 15 doi: 10.1002/jimd.12599. PMID: 36861405
Martinez Alvarez L, Jameson E, Parry NR, Lloyd C, Ashworth JL
Br J Ophthalmol 2016 Jan;100(1):98-104. Epub 2015 Jul 24 doi: 10.1136/bjophthalmol-2015-306798. PMID: 26209586

Recent systematic reviews

Arhip L, Brox-Torrecilla N, Romero I, Motilla M, Serrano-Moreno C, Miguélez M, Cuerda C
Orphanet J Rare Dis 2024 Jan 20;19(1):20. doi: 10.1186/s13023-024-03021-3. PMID: 38245797Free PMC Article
Jiang YZ, Zhou GP, Wu SS, Kong YY, Zhu ZJ, Sun LY
Transplant Rev (Orlando) 2021 Jan;35(1):100592. Epub 2020 Dec 18 doi: 10.1016/j.trre.2020.100592. PMID: 33422927
Benato A, Carecchio M, Burlina A, Paoloni F, Sartori S, Nosadini M, d'Avella D, Landi A, Antonini A
J Neural Transm (Vienna) 2019 Jun;126(6):739-757. Epub 2019 May 10 doi: 10.1007/s00702-019-02010-2. PMID: 31076915
Almási T, Guey LT, Lukacs C, Csetneki K, Vokó Z, Zelei T
Orphanet J Rare Dis 2019 Apr 25;14(1):84. doi: 10.1186/s13023-019-1063-z. PMID: 31023387Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • ACMG ACT, 2022
      American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C3 Acylcarnitine, Propionic Acidemia (PA) and Methylmalonic Acidemia (MMA), 2022

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