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Succinic semialdehyde dehydrogenase deficiency
Succinic semialdehyde dehydrogenase deficiency (SSADHD), also known as 4-hydoxybutyric aciduria or gamma-hydoxybutyric aciduria, is a rare disorder of GABA metabolism caused by a lack of the enzyme SSADH (ALDH5A1). This disorder leads to an abnormal accumulation of SSADH which is converted into GHB. People with this disorder have elevated levels of GHB in their urine, blood plasma and cerebrospinal fluid.
SSADHD causes mental retardation, delayed motor skill development, delayed speech development, hypotonia, ataxia, hyporeflexia, nystagmus, hyperkinesis, behavior abnormalities, and seizures.
|This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Succinic_semialdehyde_dehydrogenase_deficiency". A list of authors is available in Wikipedia.|