U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Combined oxidative phosphorylation defect type 30(COXPD30)

MedGen UID:
1799028
Concept ID:
C5567605
Disease or Syndrome
Synonym: Combined oxidative phosphorylation deficiency 30
SNOMED CT: Combined oxidative phosphorylation defect type 30 (1172841001); COXPD30 - combined oxidative phosphorylation defect type 30 (1172841001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): TRMT10C (3q12.3)
 
Monarch Initiative: MONDO:0014856
OMIM®: 616974
Orphanet: ORPHA478042

Definition

A rare mitochondrial oxidative phosphorylation disorder with characteristics of neonatal onset of hypotonia, feeding difficulties, deafness, and early fatal respiratory failure. Cardiac and liver involvement has been reported. Serum lactate is increased and metabolic studies show decreased activity of mitochondrial respiratory complexes I and IV in skeletal muscle. [from SNOMEDCT_US]

Clinical features

From HPO
Left ventricular hypertrophy
MedGen UID:
57442
Concept ID:
C0149721
Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
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.
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.
Decreased liver function
MedGen UID:
65430
Concept ID:
C0232744
Finding
Reduced ability of the liver to perform its functions.
Gastroesophageal reflux
MedGen UID:
1368658
Concept ID:
C4317146
Finding
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
Increased CSF lactate
MedGen UID:
257904
Concept ID:
C1167918
Finding
Increased concentration of lactate in the cerebrospinal fluid.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Lactic acidosis
MedGen UID:
1717
Concept ID:
C0001125
Disease or Syndrome
An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.
Hyper-beta-alaninemia
MedGen UID:
75702
Concept ID:
C0268630
Disease or Syndrome
An increased concentration of alanine in the blood.
Increased serum lactate
MedGen UID:
332209
Concept ID:
C1836440
Finding
Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).
Elevated hepatic transaminase
MedGen UID:
338525
Concept ID:
C1848701
Finding
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Diagnosis

Petersen KF, Dufour S, Befroy D, Garcia R, Shulman GI
N Engl J Med 2004 Feb 12;350(7):664-71. doi: 10.1056/NEJMoa031314. PMID: 14960743Free PMC Article

Prognosis

Petersen KF, Dufour S, Befroy D, Garcia R, Shulman GI
N Engl J Med 2004 Feb 12;350(7):664-71. doi: 10.1056/NEJMoa031314. PMID: 14960743Free PMC Article

Clinical prediction guides

Petersen KF, Dufour S, Befroy D, Garcia R, Shulman GI
N Engl J Med 2004 Feb 12;350(7):664-71. doi: 10.1056/NEJMoa031314. PMID: 14960743Free PMC Article

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...