Succinic semialdehyde dehydrogenase (SSADH) deficiency, also known as 4-hydoxybutyric aciduria or gamma-hydoxybutyric aciduria, is a rare disorder of GABA metabolism caused by a lack of the enzyme succinic semialdehyde dehydrogenase . This disorder leads to an abnormal accumulation of succinic semialdehyde which is converted into GHB. People with this disorder have elevated levels of GHB in their urine, blood plasma and cerbrospinal fluid.

Symptoms

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Succinic semialdehyde dehydrogenase (SSADH) deficiency causes mental retardation, delayed motor skill development, delayed speech development, hypotonia, ^*], hyporeflexia, nystagmus, hyperkinesis, behavior abnormalities, and seizures.

References

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• orpha.net
• NORD- National Organization for Rare Disorders