succinic semialdehyde dehydrogenase deficiency
Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.
MONDO:0000698
gamma-amino butyric acid metabolism disorder
is_a
4-hydroxybutyric aciduria
exact
SSADH deficiency
exact
SSADHD
related
gamma-hydroxybutyric aciduria
exact
gamma-hydroxybutyricaciduria
related
succinic semialdehyde dehydrogenase deficiency
exact
SPAC1002.12c SPAC139.05