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Succinic semialdehyde dehydrogenase deficiencySuccinic 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. Additional recommended knowledgeSymptomsSSADHD causes mental retardation, delayed motor skill development, delayed speech development, hypotonia, ataxia, hyporeflexia, nystagmus, hyperkinesis, behavior abnormalities, and seizures. For a thorough scientific overview of succinic semialdehyde dehydrogenase, one can consult chapter 91 of OMMBID[1]. For more online resources and references, see inborn errors of metabolism. References
Categories: Inborn errors of metabolism | Genetic disorders |
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. |