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Diseases / Metabolic disease/ Amino acid metabolism disease/ Inborn disorder of amino acid metabolism

Gamma-amino butyric acid metabolism disorder

rare

An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.

Identifiers: MONDO:0000698 Orphanet:79175
Part of: Inborn disorder of amino acid metabolism

Subtypes

All diseases Rare only

Disease Rare Not rare Subtypes

Homocarnosinosis MONDO:0009351 1
GABA aminotransaminase deficiency MONDO:0013166 ABAT
Succinic semialdehyde dehydrogenase deficiency MONDO:0010083 ALDH5A1

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