Disorders of mitochondrial oxidative phosphorylation

Description

An inborn error of metabolism in cellular respiration (oxidative phosphorylation) in the mitochondria, where a series of enzymes catalyze the transfer of electrons to molecular oxygen and the generation of energy-storing ATP

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

Child codes

5C53.20 – Mitochondrial DNA depletion syndromes
5C53.21 – Multiple mitochondrial DNA deletion syndromes
5C53.22 – Coenzyme Q10 deficiency
5C53.23 – Mitochondrial protein translation defects
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 children elsewhere

8C73.1 – Neuropathy, ataxia, and retinitis pigmentosa

Sibling codes

5C53.0 – Disorders of pyruvate metabolism
5C53.1 – Disorders of the citric acid cycle
5C53.3 – Disorders of mitochondrial membrane transport
5C53.4 – Disorders of creatine metabolism
5C53.Y – Other specified inborn errors of energy metabolism
5C53.Z – Inborn errors of energy metabolism, unspecified

Foundation entity

Disorders of mitochondrial oxidative phosphorylation – http://id.who.int/icd/entity/1204111545

Part of: 5C53: Inborn errors of energy metabolism › 05: Endocrine, nutritional or metabolic diseases