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Titolo:
VIGABATRIN THERAPY IN A 7 YEARS OLD BOY W ITH SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCY
Autore:
DIETZ B; AKSU F; AGUIGAH G; WITTING W; AYGEN S; LEHNERT W; JAKOBS C;
Indirizzi:
UNIV WITTEN HERDECKE,ABT NEUROPADIAT,VEST KINDERKLIN DATTELN,LLOYDSTR5 D-45711 DATTELN GERMANY UNIV WITTEN HERDECKE,ABT NEUROPADIAT,VEST KINDERKLIN DATTELN D-45711 DATTELN GERMANY
Titolo Testata:
Monatsschrift fur Kinderheilkunde
fascicolo: 8, volume: 144, anno: 1996,
pagine: 797 - 802
SICI:
0026-9298(1996)144:8<797:VTIA7Y>2.0.ZU;2-S
Fonte:
ISI
Lingua:
GER
Soggetto:
CULTURED HUMAN-LYMPHOBLASTS; ISOTOPE-DILUTION ANALYSIS; 4-HYDROXYBUTYRIC ACIDURIA; INBORN ERROR; METABOLISM; GENE; GABA;
Keywords:
SUCCINIC SEMIALDEHYDE DEHYDROGENASE; GAMMA-AMINOBUTYRIC ACID; VIGABATRIN; GAMMA-VINYL GABA; 4-HYDROXYBUTYRIC ACID; NMR-SPECTROSCOPY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
28
Recensione:
Indirizzi per estratti:
Citazione:
B. Dietz et al., "VIGABATRIN THERAPY IN A 7 YEARS OLD BOY W ITH SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCY", Monatsschrift fur Kinderheilkunde, 144(8), 1996, pp. 797-802

Abstract

Succinic semialdehyde dehydrogenase (SSADH) deficiency is an autosomal recessive error of gamma-aminobutyricasid (GABA) metabolism. In SSADH deficiency the oxidative step is blocked, and accumulated succinic semialdehyde is reduced to gamma-hydroxybutyric acid (GHB) in a reaction catalysed by 4-hydroxybutyrate dehydrogenase. The clinical presentation includes mental retardation, delayed speech development, hypotonia, ataxia, hyporeflexia, seizures, aggressive behaviour, hyperkinesis, oculomotor apraxia and choreoathetosis. Inhibition of GABA-transaminase by vigabatrin should yield a decrease in the accumulation of GHB in plasma and cerebrospinal fluid (CSF) and may lead to clinical improvement. Here we report on a 7 year old boy with SSADH deficiency treated with vigabatrin (gamma-vinyl GABA, inhibitor of GABA-transaminase). The clinical condition of the patient was characterized by psychomotor retardation, delay of speech development, hyperactivity, aggressive behaviour, muscular hypotonia and astatic seizures. Improvement of psychological and behavioural findings (level of frustration, concentration,speech and behavioural disturbances) and astatic fits after the startof the vigabatrin treatment (dosage: max. 100 mg/kg per day) seems tocontinue. Total and free GABA in CSF and GHB in plasma and CSF concentrations were determined by isotope dilution gas chromatography - massspectrometry and in-vitro proton magnetic resonance spectroscopy. CSFand plasma 4-hydroxybutyric acid (GHB) concentrations decreased during the first 3 months of vigabatrin therapy. Total GABA concentrations in CSF increased. The determination of free and total GABA in CSF and GHB in plasma and CSF might be a sensitive indicator for the evaluation of the biochemical (and clinical?) response to therapy.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/09/20 alle ore 15:53:12