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Combined Oxidative Phosphorylation Deficiency 1
Known as:
COXPD1
, HEPATOENCEPHALOPATHY, EARLY FATAL PROGRESSIVE
A progressive, fatal autosomal recessive disorder. It results from a defect in the mitochondrial oxidative phosphorylation system. It manifests with…
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National Institutes of Health
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Related topics
Related topics
11 relations
Autosomal recessive inheritance
Cholestasis
Fetal Growth Retardation
Global brain atrophy
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Broader (2)
Hepatic Encephalopathy
Inborn Errors of Metabolism
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