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Genetic and Rare Diseases Information Center (GARD)

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Succinic semialdehyde dehydrogenase deficiency

Other Names for this Disease
  • 4-hydroxybutyric aciduria
  • GABA metabolic defect
  • Gamma-hydroxybutyricaciduria
  • SSADH deficiency
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What is the prognosis for individuals with succinic semialdehyde dehydrogenase deficiency?

There has been very limited extended follow-up of this condition from childhood into adulthood, so little is known about the long-term prognosis for individuals with the condition. Because the nature and severity of signs and symptoms are so variable among affected individuals, the prognosis and quality of life likely depend on the specific features each affected individual has.

In the limited information available about SSADH deficiency in older individuals, it has been reported that the main neurobehavioral features present in adolescents and adults with the condition include attention deficit, hyperactivity, anxiety, obsession-compulsion, aggressive behavior, hallucinatory episodes, and autistic features.[1] One article discussing how SSADH deficiency affected a single individual over 20 years reported that hyperactivity in adolescence evolved into moderate psychopathology in adulthood, which consisted of depression and obsession-compulsion. The authors of this study report that features in this individual are similar to those seen in others. They also stated that the individual did not have any further neurological deterioration over the 20-year period.[1] However, this information about a single affected individual may not apply to other individuals with the condition.
Last updated: 9/25/2013

  1. Crutchfield SR, Haas RH, Nyhan WL, Gibson KM.. Succinic semialdehyde dehydrogenase deficiency: phenotype evolution in an adolescent patient at 20-year follow-up. Developmental medicine and child neurology. November 2008; 50(11):880-881. Accessed 9/25/2013.