5C53.23

ICD-11 MMS 2026-01

Mitochondrial protein translation defects

Description

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 defects
  • Combined oxidative phosphorylation deficiency
  • COXPD - [Combined oxidative phosphorylation deficiency]
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  • Combined mitochondrial respiratory chain complex deficiency
  • Respiratory chain multiple deficiencies
  • Combined oxidative phosphorylation deficiency type 1
  • COXPD1 - [Combined oxidative phosphorylation deficiency type 1]
  • Early fatal progressive hepatoencephalopathy
  • Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
  • Combined oxidative phosphorylation deficiency type 2
  • COXPD2 - [Combined oxidative phosphorylation deficiency type 2]
  • Corpus callosum agenesis with dysmorphism and fatal lactic acidosis
  • Combined oxidative phosphorylation deficiency type 3
  • COXPD3 - [Combined oxidative phosphorylation deficiency type 3]
  • Concentric cardiomyopathy, hypotonia and lactic acidosis
  • Encephalopathy, respiratory failure and lactic acidosis
  • Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
  • Combined oxidative phosphorylation deficiency type 4
  • COXPD4 - [Combined oxidative phosphorylation deficiency type 4]
  • Combined oxidative phosphorylation deficiency type 5
  • COXPD5 - [Combined oxidative phosphorylation deficiency type 5]
  • Hypotonia with lactic acidaemia and hyperammonaemia
  • Combined oxidative phosphorylation deficiency type 6
  • COXPD6- [Combined oxidative phosphorylation deficiency type 6]
  • X-linked mitochondrial encephalomyopathy
  • 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]

Exclusions from above levels

  • http://id.who.int/icd/entity/1191191920 – Disorders of lipoprotein metabolism or certain specified lipidaemias
  • 3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
  • 5A71.01 – Congenital adrenal hyperplasia
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  • 5A81.1 – 5-alpha-reductase deficiency
  • LD28.01 – Marfan syndrome
  • LD28.1 – Ehlers-Danlos syndrome
  • LD2A.4 – androgen resistance syndrome
  • 18 – Pregnancy, childbirth or the puerperium
  • http://id.who.int/icd/entity/1004987305 – Transitory endocrine or metabolic disorders specific to fetus or newborn

Sibling codes

  • 5C53.20 – Mitochondrial DNA depletion syndromes
  • 5C53.21 – Multiple mitochondrial DNA deletion syndromes
  • 5C53.22 – Coenzyme Q10 deficiency
  • 5C53.24 – Leigh syndrome
  • 5C53.25 – Isolated ATP synthase deficiency
  • 5C53.2Y – Other specified disorders of mitochondrial oxidative phosphorylation
  • 5C53.2Z – Disorders of mitochondrial oxidative phosphorylation, unspecified

Foundation entity

Mitochondrial protein translation defects – http://id.who.int/icd/entity/336470017

Part of: 5C53.2: Disorders of mitochondrial oxidative phosphorylation › 5C53: Inborn errors of energy metabolism › 05: Endocrine, nutritional or metabolic diseases