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5C53.23 Mitochondrial protein translation defects

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

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.

code elsewhere

• Pontocerebellar hypoplasia type 6  (LD20.01)
• Mitochondrial myopathy with sideroblastic anaemia  (3A72.0Y)

synonyms

• Mitochondrial protein translation defects
• Combined oxidative phosphorylation deficiency
• Combined mitochondrial respiratory chain complex deficiency
• Respiratory chain multiple deficiencies
• COXPD - [Combined oxidative phosphorylation deficiency]
• Combined oxidative phosphorylation deficiency type 1
• Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
• Early fatal progressive hepatoencephalopathy
• COXPD1 - [Combined oxidative phosphorylation deficiency type 1]
• Combined oxidative phosphorylation deficiency type 2
• Corpus callosum agenesis with dysmorphism and fatal lactic acidosis
• COXPD2 - [Combined oxidative phosphorylation deficiency type 2]
• Combined oxidative phosphorylation deficiency type 3
• Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
• Encephalopathy, respiratory failure and lactic acidosis
• Concentric cardiomyopathy, hypotonia and lactic acidosis
• COXPD3 - [Combined oxidative phosphorylation deficiency type 3]
• Combined oxidative phosphorylation deficiency type 4
• COXPD4 - [Combined oxidative phosphorylation deficiency type 4]
• Combined oxidative phosphorylation deficiency type 5
• Hypotonia with lactic acidaemia and hyperammonaemia
• COXPD5 - [Combined oxidative phosphorylation deficiency type 5]
• Combined oxidative phosphorylation deficiency type 6
• X-linked mitochondrial encephalomyopathy
• COXPD6- [Combined oxidative phosphorylation deficiency type 6]
• Combined oxidative phosphorylation deficiency type 7
• Acute infantile liver failure due to mitochondrial DNA-encoded proteins synthesis defect
• Leukoencephalopathy with brainstem - spinal cord involvement - lactate elevation
• LBSL - [Leukoencephalopathy with brain stem - spinal cord involvement - lactate elevation]

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