Succinic semialdehyde dehydrogenase deficiency

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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. 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 cerbrospinal fluid.

[edit] Symptoms

SSADHD causes mental retardation, delayed motor skill development, delayed speech development, hypotonia, ataxia, hyporeflexia, nystagmus, hyperkinesis, behavior abnormalities, and seizures.

[edit] References

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