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Succinic semialdehyde dehydrogenase deficiency
Other Names for this Disease
- 4-hydroxybutyric aciduria
- GABA metabolic defect
- SSADH deficiency
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hypotonia; difficulty coordinating movements (ataxia); and/or seizures. Some affected individuals may also have decreased reflexes (hyporeflexia); nystagmus; hyperactivity; and/or behavioral problems. SSADH deficiency is caused by mutations in the ALDH5A1 gene and is inherited in an autosomal recessive manner. Management is generally symptomatic and typically focuses on treating seizures and neurobehavioral issues.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);
Last updated: 9/25/2013
- Succinic Semialdehyde Dehydrogenase Deficiency. NORD. 2003; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1113/viewAbstract. Accessed 9/25/2013.
- Succinic semialdehyde dehydrogenase deficiency. Genetics Home Reference. June 2008; http://ghr.nlm.nih.gov/condition/succinic-semialdehyde-dehydrogenase-deficiency. Accessed 9/25/2013.
- 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.
- 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.
Selected Full-Text Journal Articles
- Pearl PL, Gibson KM, Cortez MA, et al. Succinic semialdehyde dehydrogenase deficiency: Lessons from mice and men. J. Inherit. Metab. Dis. 2009 June; 32(3):343-52.