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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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Overview


Succinic semialdehyde dehydrogenase (SSADH) deficiency is disorder that can cause a variety of neurological and neuromuscular problems. The signs and symptoms can be extremely variable among affected individuals and may include mild to severe intellectual disability; developmental delay (especially involving speech); hypotonia; difficulty coordinating movements (ataxia); and/or seizures. Some affected individuals may also have decreased reflexes (hyporeflexia); nystagmus; hyperactivity; and/or behavioral problems.[1][2] SSADH deficiency is caused by mutations in the ALDH5A1 gene and is inherited in an autosomal recessive manner.[2] Management is generally symptomatic and typically focuses on treating seizures and neurobehavioral issues.[3]
Last updated: 9/25/2013

References

  1. Succinic Semialdehyde Dehydrogenase Deficiency. NORD. 2003; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1113/viewAbstract. Accessed 9/25/2013.
  2. Succinic semialdehyde dehydrogenase deficiency. Genetics Home Reference. June 2008; http://ghr.nlm.nih.gov/condition/succinic-semialdehyde-dehydrogenase-deficiency. Accessed 9/25/2013.
  3. Pearl PL, Dorsey AM, Barrios ES, Gibson KM. Succinic Semialdehyde Dehydrogenase Deficiency. GeneReviews. September 19, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1195/. Accessed 9/25/2013.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Succinic semialdehyde dehydrogenase deficiency. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Succinic semialdehyde dehydrogenase deficiency. Click on the link to view a sample search on this topic.

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