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Pathway Description
Succinic Semialdehyde Dehydrogenase Deficiency
Homo sapiens
Disease Pathway
Created: 2013-08-29
Last Updated: 2022-12-14
Succinic Semialdehyde Dehydrogenase (SSADH) deficiency is a rare autosomal recessive inherited disorder affecting the metabolism of γ-aminobutyric acid (GABA). With reduced GABA activity, oxidation of succinic semialdehyde (SSA) to succinic acid is impaired causing a build up of SSA and ultimately it’s downstream metabolite γ-hydroxybutyric acid (GHB).
Symptoms of SSADH deficiency are primarily neuropsychiatric including developmental delays, hypotonia, expressive language impairment, seizures, difficulty coordinating movements (ataxia), decreased reflexes (hyporeflexia), and other behavioral issues. Patients with SSADH deficiency have elevated levels of GHB in urine, however this method is not a definitive diagnosis due to the potential volatilization of acidified urine and the use of GHB as a drug. Instead SSADH can be confirmed suing enzyme analysis in leukocytes and molecular genetic analysis of the Aldh5a1 gene at chromosome 6p22.
References
Succinic Semialdehyde Dehydrogenase Deficiency References
[Metagen: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY](http://metagene.de/program/d.prg?id_d=7)
[OMIM: 271980](http://omim.org/entry/271980})
[NIH](http://ghr.nlm.nih.gov/condition/succinic-semialdehyde-dehydrogenase-deficiency)
Gibson KM, Hoffmann GF, Hodson AK, Bottiglieri T, Jakobs C: 4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism. Neuropediatrics. 1998 Feb;29(1):14-22. doi: 10.1055/s-2007-973527.
Pubmed: 9553943
Vanadia E., Gibson K.M., Pearl P.L., Trapolino E., Mangano S., Vanadia F. (2012) Therapeutic Efficacy of Magnesium Valproate in Succinic Semialdehyde Dehydrogenase Deficiency. In: Zschocke J., Gibson K., Brown G., Morava E., Peters V. (eds) JIMD Reports - Case and Research Reports, 2012/5. JIMD Reports, vol 8. Springer, Berlin, Heidelberg
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Pubmed: 18622364
Glutamate Metabolism References
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