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Diseases

Genetic and Rare Diseases Information Center (GARD)

Succinic semialdehyde dehydrogenase deficiency


Other Names for this Disease
  • 4-hydroxybutyric aciduria
  • Gamma-hydroxybutyricaciduria
  • SSADH deficiency
  • GABA metabolic defect
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a 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.

Selected Full-Text Journal Articles

Other Names for this Disease
  • 4-hydroxybutyric aciduria
  • Gamma-hydroxybutyricaciduria
  • SSADH deficiency
  • GABA metabolic defect
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.