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GTR Home > Conditions/Phenotypes > Combined oxidative phosphorylation deficiency 42

Combined oxidative phosphorylation deficiency 42

Summary

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). [from OMIM]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 15E1.2, COXPD42, GATC
    Summary: glutamyl-tRNA amidotransferase subunit C

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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