Human genes for succinic semialdehyde dehydrogenase deficiency
Succinic semialdehyde dehydrogenase deficiency [DOID:0060175]
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.
Synonyms: succinic semialdehyde dehydrogenase deficiency, DOID:0060175, succinic semialdehyde dehydrogenase deficiencies, 4-hydroxybutyric aciduria, gamma-hydroxybutyric aciduria ...
Linkouts: OMIM