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Pathway Description
4-Hydroxybutyric Aciduria/Succinic Semialdehyde Dehydrogenase Deficiency
Homo sapiens
Disease Pathway
Created: 2013-08-01
Last Updated: 2022-12-14
4-Hydroxybutyric Aciduria/Succinic Semialdehyde Dehydrogenase Deficiency (SSADH; Gamma-hydroxybutyric acidemia) inhibits the formation of succinate from GABA. This deficiency results in urinary excretion of 4-hydroxybutyric acid. In vivo proton MR also indicates elevated GABA levels as compared with an age-matched control. Symptoms include ataxia, chorea or athetosis, motor retardation, seizures, macrocephaly and delayed or abnormal speech development.
References
4-Hydroxybutyric Aciduria/Succinic Semialdehyde Dehydrogenase Deficiency References
[OMIM: Entry 271980](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=271980)
[Uniprot: P51649](http://www.uniprot.org/uniprot/P51649)
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Pubmed: 14635103
Blasi P, Palmerio F, Caldarola S, Rizzo C, Carrozzo R, Gibson KM, Novelletto A, Deodato F, Cappa M, Dioni-Vici C, Malaspina P: Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation. Clin Genet. 2006 Mar;69(3):294-6. doi: 10.1111/j.1399-0004.2006.00579.x.
Pubmed: 16542398
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Pubmed: 9093300
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Pubmed: 9553943
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Pubmed: 6627675
Hogema BM, Gupta M, Senephansiri H, Burlingame TG, Taylor M, Jakobs C, Schutgens RB, Froestl W, Snead OC, Diaz-Arrastia R, Bottiglieri T, Grompe M, Gibson KM: Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase. Nat Genet. 2001 Oct;29(2):212-6. doi: 10.1038/ng727.
Pubmed: 11544478
Glutamate Metabolism References
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Pubmed: 14702039
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