5C53.23
Mitochondrial protein translation defects
Defeitos de tradução da proteína mitocondrial
CategoryDefinition
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.
Index Terms
Mitochondrial protein translation defectsCombined oxidative phosphorylation deficiencyCombined mitochondrial respiratory chain complex deficiencyRespiratory chain multiple deficienciesCOXPD - [Combined oxidative phosphorylation deficiency]Combined oxidative phosphorylation deficiency type 1Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1Early fatal progressive hepatoencephalopathyCOXPD1 - [Combined oxidative phosphorylation deficiency type 1]Combined oxidative phosphorylation deficiency type 2Corpus callosum agenesis with dysmorphism and fatal lactic acidosisCOXPD2 - [Combined oxidative phosphorylation deficiency type 2]Combined oxidative phosphorylation deficiency type 3Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3Encephalopathy, respiratory failure and lactic acidosisConcentric cardiomyopathy, hypotonia and lactic acidosisCOXPD3 - [Combined oxidative phosphorylation deficiency type 3]Combined oxidative phosphorylation deficiency type 4COXPD4 - [Combined oxidative phosphorylation deficiency type 4]Combined oxidative phosphorylation deficiency type 5Hypotonia with lactic acidaemia and hyperammonaemiaCOXPD5 - [Combined oxidative phosphorylation deficiency type 5]Combined oxidative phosphorylation deficiency type 6X-linked mitochondrial encephalomyopathyCOXPD6- [Combined oxidative phosphorylation deficiency type 6]Combined oxidative phosphorylation deficiency type 7Acute infantile liver failure due to mitochondrial DNA-encoded proteins synthesis defectLeukoencephalopathy with brainstem - spinal cord involvement - lactate elevationLBSL - [Leukoencephalopathy with brain stem - spinal cord involvement - lactate elevation]