gamma-hydroxybutyric aciduria
MIM.271980 6p22
deficiency of succinic semialdehyde dehydrogenase, SSADH deficiency
Succinic semialdehyde dehydrogenase (SSADH deficiency) (MIM 271980) is a defect in gamma-aminobutyric acid catabolism, resulting in the accumulation of gamma-hydroxybutyric acid (GHB) and causing neurological and cognitive disorders of varying severity.