Term Name: | succinic semialdehyde dehydrogenase deficiency |
---|---|
Synonyms: | 4-hydroxybutyric aciduria, gamma-hydroxybutyric aciduria, SSADH |
Definition: | A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid. |
Ontology: | Human Disease [DOID:0060175] ( DOID:0060175 ) |