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Combined oxidative phosphorylation defect type 9(COXPD9)

MedGen UID:
1634481
Concept ID:
C4706315
Disease or Syndrome
Synonym: Combined oxidative phosphorylation deficiency 9
SNOMED CT: Combined oxidative phosphorylation defect type 9 (763209008); COXPD9 - combined oxidative phosphorylation defect type 9 (763209008)
 
Gene (location): MRPL3 (3q22.1)
 
Monarch Initiative: MONDO:0013811
OMIM®: 614582
Orphanet: ORPHA319509

Definition

A rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V. Caused by compound heterozygous mutation in the MRPL3 gene on chromosome 3q22. [from SNOMEDCT_US]

Clinical features

From HPO
Interstitial nephritis
MedGen UID:
11952
Concept ID:
C0041349
Disease or Syndrome
A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.
Hypertrophic cardiomyopathy
MedGen UID:
2881
Concept ID:
C0007194
Disease or Syndrome
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
Patent foramen ovale
MedGen UID:
8891
Concept ID:
C0016522
Congenital Abnormality
Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Feeding difficulties
MedGen UID:
65429
Concept ID:
C0232466
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Hepatic steatosis
MedGen UID:
398225
Concept ID:
C2711227
Disease or Syndrome
Steatosis is a term used to denote lipid accumulation within hepatocytes.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Dyspnea
MedGen UID:
3938
Concept ID:
C0013404
Sign or Symptom
Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.
Elevated circulating aspartate aminotransferase concentration
MedGen UID:
57497
Concept ID:
C0151904
Finding
An abnormally high concentration in the circulation of aspartate aminotransferase (AST).
Elevated circulating alanine aminotransferase concentration
MedGen UID:
57740
Concept ID:
C0151905
Finding
An abnormally high concentration in the circulation of alanine aminotransferase (ALT).
Metabolic acidosis
MedGen UID:
65117
Concept ID:
C0220981
Pathologic Function
Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.
Ketoacidosis
MedGen UID:
67434
Concept ID:
C0220982
Disease or Syndrome
Acidosis resulting from accumulation of ketone bodies.
Hyper-beta-alaninemia
MedGen UID:
75702
Concept ID:
C0268630
Disease or Syndrome
An increased concentration of alanine in the blood.
Elevated gamma-glutamyltransferase level
MedGen UID:
1370086
Concept ID:
C4476869
Finding
Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.
Elevated serum anion gap
MedGen UID:
1671031
Concept ID:
C4732778
Finding
An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration).
Elevated lactate:pyruvate ratio
MedGen UID:
1717835
Concept ID:
C5397670
Finding
An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Thingholm TE, Bak S, Beck-Nielsen H, Jensen ON, Gaster M
Mol Cell Proteomics 2011 Sep;10(9):M110.006650. Epub 2011 Jun 22 doi: 10.1074/mcp.M110.006650. PMID: 21697546Free PMC Article
Cízková A, Stránecký V, Ivánek R, Hartmannová H, Nosková L, Piherová L, Tesarová M, Hansíková H, Honzík T, Zeman J, Divina P, Potocká A, Paul J, Sperl W, Mayr JA, Seneca S, Houstĕk J, Kmoch S
BMC Genomics 2008 Jan 25;9:38. doi: 10.1186/1471-2164-9-38. PMID: 18221507Free PMC Article
Yaplito-Lee J, Weintraub R, Jamsen K, Chow CW, Thorburn DR, Boneh A
J Pediatr 2007 Apr;150(4):407-11. doi: 10.1016/j.jpeds.2006.12.047. PMID: 17382120

Diagnosis

Zhang Q, Ouyang Q, Xiang J, Li H, Lv H, An Y
Genes (Basel) 2023 Feb 22;14(3) doi: 10.3390/genes14030552. PMID: 36980825Free PMC Article
Cízková A, Stránecký V, Ivánek R, Hartmannová H, Nosková L, Piherová L, Tesarová M, Hansíková H, Honzík T, Zeman J, Divina P, Potocká A, Paul J, Sperl W, Mayr JA, Seneca S, Houstĕk J, Kmoch S
BMC Genomics 2008 Jan 25;9:38. doi: 10.1186/1471-2164-9-38. PMID: 18221507Free PMC Article
Yaplito-Lee J, Weintraub R, Jamsen K, Chow CW, Thorburn DR, Boneh A
J Pediatr 2007 Apr;150(4):407-11. doi: 10.1016/j.jpeds.2006.12.047. PMID: 17382120

Prognosis

Yaplito-Lee J, Weintraub R, Jamsen K, Chow CW, Thorburn DR, Boneh A
J Pediatr 2007 Apr;150(4):407-11. doi: 10.1016/j.jpeds.2006.12.047. PMID: 17382120

Clinical prediction guides

Werren EA, Srinivasan VM, Gowda VK, Pandey A, Vaish S, Kabbur AR, Nandeesh BN, Srivastava A
Am J Med Genet A 2023 Sep;191(9):2446-2450. Epub 2023 Jun 20 doi: 10.1002/ajmg.a.63310. PMID: 37337918
Zhang Q, Ouyang Q, Xiang J, Li H, Lv H, An Y
Genes (Basel) 2023 Feb 22;14(3) doi: 10.3390/genes14030552. PMID: 36980825Free PMC Article
Fontanesi F, Palmieri L, Scarcia P, Lodi T, Donnini C, Limongelli A, Tiranti V, Zeviani M, Ferrero I, Viola AM
Hum Mol Genet 2004 May 1;13(9):923-34. Epub 2004 Mar 11 doi: 10.1093/hmg/ddh108. PMID: 15016764

Recent systematic reviews

Zhang Q, Ouyang Q, Xiang J, Li H, Lv H, An Y
Genes (Basel) 2023 Feb 22;14(3) doi: 10.3390/genes14030552. PMID: 36980825Free PMC Article

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