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Pathway Description
4-Hydroxybutyric Aciduria/Succinic Semialdehyde Dehydrogenase Deficiency
Rattus norvegicus
Disease Pathway
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
Gibson KM, Sweetman L, Nyhan WL, Jakobs C, Rating D, Siemes H, Hanefeld F: Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism. Clin Chim Acta. 1983 Sep 15;133(1):33-42.
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
This pathway was propagated using PathWhiz -
Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.
Propagated from PW000070
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