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GTR Home > Conditions/Phenotypes > Combined oxidative phosphorylation defect type 24

Combined oxidative phosphorylation defect type 24

Synonyms
Combined oxidative phosphorylation deficiency 24
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Combined oxidative phosphorylation deficiency-24 (COXPD24) is an autosomal recessive mitochondrial disorder with wide phenotypic variability. Most patients present in infancy with delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment due to auditory neuropathy. Less common features may include cortical blindness, renal dysfunction, and/or liver involvement, suggestive of Alpers syndrome (MTDPS4A; 203700). Patients with the severe phenotype tend to have brain abnormalities on imaging, including cerebral atrophy and hyperintensities in the basal ganglia and brainstem, consistent with Leigh syndrome. Laboratory values may be normal or show increased lactate and evidence of mitochondrial respiratory chain defects, particularly in muscle. Some patients achieve little developmental milestones and may die in infancy or early childhood. However, some patients have a less severe phenotype manifest only by myopathy (summary by Sofou et al., 2015, Vanlander et al., 2015, and Mizuguchi et al., 2017). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). [from OMIM]

Available tests

32 tests are in the database for this condition.

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Clinical tests (32 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DFNB94, SLM5, asnRS, NARS2
    Summary: asparaginyl-tRNA synthetase 2, mitochondrial

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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