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.

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Symptoms

SSADHD 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

1. ^ Charles Scriver, Beaudet, A.L., Valle, D., Sly, W.S., Vogelstein, B., Childs, B., Kinzler, K.W. (Accessed 2007). The Online Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill. - Summaries of 255 chapters, full text through many universities. There is also the OMMBID blog.