Cerebral organic aciduria

Description

This is a term used to classify a group of metabolic disorders which disrupt normal amino acid metabolism, particularly branched-chain amino acids, causing a buildup of acids which are usually not present.

Index terms

Cerebral organic aciduria
Glutaric aciduria type 1
Glutaric acidaemia type 1

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Glutaryl-CoA dehydrogenase deficiency
2-hydroxyglutaric aciduria
L-2-hydroxyglutaric aciduria
D-2-hydroxyglutaric aciduria
D-2-hydroxyglutarate dehydrogenase deficiency
Mitochondrial isocitrate dehydrogenase deficiency
Aminoacylase deficiency
Neurological conditions associated with aminoacylase 1 deficiency
Canavan disease
Aspartoacylase deficiency
Canavan-van Bogaert-Bertrand disease
Spongy degeneration of central nervous system
Malonic aciduria
Malonyl-CoA decarboxylase deficiency
Ethylmalonic encephalopathy
4-hydroxybutyric aciduria
Gamma-hydroxybutyric acidaemia
Succinic semialdehyde dehydrogenase deficiency

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

5C50.E0 – Classical organic aciduria
5C50.EY – Other specified organic aciduria
5C50.EZ – Organic aciduria, unspecified

Foundation entity

Cerebral organic aciduria – http://id.who.int/icd/entity/1644149132

Part of: 5C50.E: Organic aciduria › 5C50: Inborn errors of amino acid or other organic acid metabolism › 05: Endocrine, nutritional or metabolic diseases