succinate-semialdehyde dehydrogenase deficiency
- succinate-semialdehyde dehydrogenase deficiency
- suc·ci·nate-semi·al·de·hyde de·hy·dro·gen·ase de·fi·cien·cy (sukґsĭ-nāt sem″e-alґdə-hīd de-hiґdro-jən-ās) an autosomal recessive aminoacidopathy caused by mutation in the succinate semialdehyde dehydrogenase gene (ALDH5A1, locus: 6p22), resulting in deficiency of the enzyme. The resulting increase in γ-aminobutyric acid and γ-hydroxybutyric acid causes mental retardation, hypotonia, and ataxia. Called also γ- or 4-hydroxybutyricaciduria.
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2011.
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Succinic semialdehyde dehydrogenase deficiency — Infobox Disease Name = PAGENAME Caption = Gamma Hydroxybutyric acid DiseasesDB = 29825 ICD10 = ICD9 = ICDO = OMIM = 271980 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Succinic semialdehyde dehydrogenase deficiency (SSADHD), also known … Wikipedia
succinate semialdehyde — An intermediate in the catabolism of γ aminobutyrate. s. dehydrogenase an enzyme that catalyzes the reaction of s. and either NAD+ or NADP+ to form succinate and NADH (or NADPH); a deficiency of this … Medical dictionary
γ-hydroxybutyric acid — (GHB) butyric acid substituted at the γ, or 4, position; it is an intermediate in the metabolism of γ aminobutyric acid (GABA) and with GABA occurs at elevated levels in some body fluids in succinate semialdehyde dehydrogenase… … Medical dictionary
ALDH5A1 (gene) — Aldehyde dehydrogenase 5 family, member A1 (succinate semialdehyde dehydrogenase), also known as ALDH5A1, is a human gene.cite web | title = Entrez Gene: ALDH5A1 aldehyde dehydrogenase 5 family, member A1 (succinate semialdehyde dehydrogenase)|… … Wikipedia
Gamma-Hydroxybutyric acid — γ Hydroxybutyric acid Systematic (IUPAC) name 4 Hydroxybutanoic acid … Wikipedia
List of diseases (S) — A list of diseases in the English wikipedia.DiseasesTOC NOTOC Sa Sc Se Sh Si Sj Sn So Sp Sq Ss St Su Sw Sy aSaa Sak Sal Sar Sat Say aa Sal* Saal Bulas syndrome * Saal Greenstein syndrome * Sabinas brittle hair syndrome * Saccharopinuria * Sackey… … Wikipedia
NCS-382 — IUPAC name (2E) (5 hydroxy 5,7,8,9 tetrahydro 6H benzo[a][7]annulen 6 ylidene ethanoic acid … Wikipedia
Methylmalonyl-CoA mutase — Rendering based on PDB 2XIJ … Wikipedia
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