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GTR Home > Conditions/Phenotypes > Combined oxidative phosphorylation defect type 9

Combined oxidative phosphorylation defect type 9

Synonyms
Combined oxidative phosphorylation deficiency 9

Summary

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]

Available tests

24 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: COXPD9, MRL3, RPML3, uL3m, MRPL3
    Summary: mitochondrial ribosomal protein L3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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