Succinate semialdehyde dehydrogenase

Disorders of GABA Vitamin B6-dependent seizures Often an absence of succinic semialdehyde dehydrogenase Hypotonia, ataxia, mental retardation in older child. Increased urine 4-OH-butyric acid. Pyridoxine (B6-dependent disorder) Inhibitors of GABA transaminase... [Pg.668]

Succinic semialdehyde dehydrogenase deficiency. Patients have mental retardation, cerebellar disease, and hypotonia. They excrete large amounts of both succinic semialdehyde and 4-hydroxybutyric acid. There is no known therapy. [Pg.682]

Gupta, M Greven, R., Jansen, E. E., et al. (2002) Therapeutic intervention in mice deficient for succinate semialdehyde dehydrogenase (gamma-hydroxybutyric aciduria). J. Pharmacol. Exp. Ther. 302,180-187. [Pg.144]

Contraindications Metabolic/respiratory alkalosis, current treatment with sedative-hypnotics, succinic semialdehyde dehydrogenase deficiency, hypersensitivity to sodium oxybate or any component of fhe formulaf ion... [Pg.1137]

Gibson KM, Lee CF, Chambliss KL, Kamali V, Francois B, Jaeken J, Jakobs C (1991) 4-Hy-droxybutyric aciduria application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts. Clin Chim Acta 196 219-222... [Pg.127]

Gibson KM, Baumann C, Ogier H, Rossier E, Vollmer B, Jakobs C (1994) Pre- and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assays. J Inherit Metab Dis 17 732-737... [Pg.127]

Gibson KM, Jakobs C, Pearl PL, Snead OC (2005) Murine succinate semialdehyde dehydrogenase deficiency, a heritable disorder of GABA metabolism with epileptic phenotype. IUBMB Life 57 639-644... [Pg.127]

Gupta M, Polinsky M, Senephansiri H, Snead OC, Jansen EEW, Jakobs C, Gibson KM (2004) Seizure evolution and amino acid imbalances in murine succinate semialdehyde dehydrogenase (SSADH) deficiency. Neurobiol Dis 16 556-562... [Pg.127]

Hydroxy butyric aciduria Succinic semialdehyde dehydrogenase... [Pg.138]

Metabolite of GABA GHB aciduria from succinic semialdehyde dehydrogenase deficiency drug of abuse (body builders,... [Pg.196]

Succinic semialdehyde dehydrogenase (SSADH) succinic semialdehyde reductase (SSAR) —> GHB 6.IE... [Pg.236]

A 21-year-old Turkish man with succinic semialdehyde dehydrogenase deficiency and mental retardation developed neuroleptic malignant syndrome after a single dose of haloperidol 10 mg for anxiety and agitation, having never received a neuroleptic drug before. [Pg.296]

Neuroleptic malignant syndrome in a patient with succinic semialdehyde dehydrogenase deficiency. [Pg.299]

Figure 6.3. GABA shunt as an alternative to a-ketoglutarate dehydrogenase in the citric acid cycle. 2-Oxoglutarate dehydrogenase, EC 1.2.4.2 glutamate decarboxylase, EC 4.1.1.15 GABA aminotransferase, EC 2.6.1.19 and succinic semialdehyde dehydrogenase, ECl.2.1.16.

Epilepsy Succinic semialdehyde dehydrogenase Sodium valproate... [Pg.718]

Neu P, Seyfert S, BrockmoUer J, Dettling M, Marx P. Neuroleptic malignant syndrome in a patient with succinic semialdehyde dehydrogenase deficiency. Pharmacopsychiatry 2002 35(l) 26-8. [Pg.1580]

Vigabatrin can exacerbate myoclonic and absence seizures and occasionally other seizure types, especially in children with generalized epilepsies. After the administration of vigabatrin, seizures worsened in all of four children with Angelman syndrome (10), and generalized seizures occurred for the first time in a boy with succinic semialdehyde dehydrogenase deficiency (SEDA-21, 77). De novo myoclonic jerks and precipitation of status epi-lepticus have also been reported (SEDA-20, 70). [Pg.3624]

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