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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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