5C50.E1 Cerebral organic aciduria
International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01
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.
synonyms
- Cerebral organic aciduria
- Glutaric aciduria type 1
- Glutaric acidaemia type 1
- 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
- Spongy degeneration of central nervous system
- Aspartoacylase deficiency
- Canavan-van Bogaert-Bertrand disease
- Malonic aciduria
- Malonyl-CoA decarboxylase deficiency
- Ethylmalonic encephalopathy
- 4-hydroxybutyric aciduria
- Succinic semialdehyde dehydrogenase deficiency
- Gamma-hydroxybutyric acidaemia
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