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succinic semialdehyde dehydrogenase deficiency

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Mondo Description 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.
Uniprot Description A rare inborn error of 4-aminobutyric acid (GABA) metabolism, which leads to accumulation of 4-hydroxybutyric acid in physiologic fluids of patients. The disease is clinically characterized by developmental delay, hypotonia, mental retardation, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0010083:  succinic semialdehyde dehydrogenase deficiency
GARD:0007695: 
MESH:C535803: 
Orphanet:22: 
SCTID:49748000: 
UMLS:C0268631: