5C53.23
category
Mitochondrial protein translation defects
Definition
This refers to defects in the enzyme that belongs to the family of hydrolases, specifically those acting on acid anhydrides to catalyse transmembrane movement of substances.
Also indexed as
Acute infantile liver failure due to mitochondrial DNA-encoded proteins synthesis defectCOXPD - [Combined oxidative phosphorylation deficiency]COXPD1 - [Combined oxidative phosphorylation deficiency type 1]COXPD2 - [Combined oxidative phosphorylation deficiency type 2]COXPD3 - [Combined oxidative phosphorylation deficiency type 3]COXPD4 - [Combined oxidative phosphorylation deficiency type 4]COXPD5 - [Combined oxidative phosphorylation deficiency type 5]COXPD6- [Combined oxidative phosphorylation deficiency type 6]Combined mitochondrial respiratory chain complex deficiencyCombined oxidative phosphorylation deficiencyCombined oxidative phosphorylation deficiency type 1Combined oxidative phosphorylation deficiency type 2Combined oxidative phosphorylation deficiency type 3Combined oxidative phosphorylation deficiency type 4Combined oxidative phosphorylation deficiency type 5Combined oxidative phosphorylation deficiency type 6Combined oxidative phosphorylation deficiency type 7Concentric cardiomyopathy, hypotonia and lactic acidosisCorpus callosum agenesis with dysmorphism and fatal lactic acidosisEarly fatal progressive hepatoencephalopathyEncephalopathy, respiratory failure and lactic acidosisFatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1Hypotonia with lactic acidaemia and hyperammonaemiaLBSL - [Leukoencephalopathy with brain stem - spinal cord involvement - lactate elevation]Leukoencephalopathy with brainstem - spinal cord involvement - lactate elevationMitochondrial protein translation defectsRespiratory chain multiple deficienciesX-linked mitochondrial encephalomyopathy