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Titolo:
SEIZURES IN A BOY WITH SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCYTREATED WITH VIGABATRIN (GAMMA-VINYL-GABA)
Autore:
MATERN D; LEHNERT W; GIBSON KM; KORINTHENBERG R;
Indirizzi:
UNIV FREIBURG,CHILDRENS HOSP,MATHILDENSTR 1 D-79106 FREIBURG GERMANY BAYLOR UNIV,MED CTR,BAYLOR RES INST DALLAS TX 00000 UNIV TEXAS,SW MED CTR,DEPT NEUROL DALLAS TX 75235
Titolo Testata:
Journal of inherited metabolic disease
fascicolo: 3, volume: 19, anno: 1996,
pagine: 313 - 318
SICI:
0141-8955(1996)19:3<313:SIABWS>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
4-HYDROXYBUTYRIC ACIDURIA; ACUTE ENCEPHALOPATHY; THERAPY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
24
Recensione:
Indirizzi per estratti:
Citazione:
D. Matern et al., "SEIZURES IN A BOY WITH SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCYTREATED WITH VIGABATRIN (GAMMA-VINYL-GABA)", Journal of inherited metabolic disease, 19(3), 1996, pp. 313-318

Abstract

Succinic semialdehyde dehydrogenase (SSADH) deficiency is an autosomal recessive disease involving the catabolism of the neurotransmitter gamma-aminobutyric acid (GABA). The main symptoms include retardation of psychomotor and language development, muscle hypotonia and non-progressive ataxia. Therapy consisting of approximately 75 mg/kg per day ofvigabatrin, an irreversible inhibitor of GABA-transaminase, is reported to lead to some improvement of the clinical condition in affected patients. We report on a 12-year-old boy with SSADH deficiency who, when treated with 75 mg/kg per day of vigabatrin, showed marked amelioration of symptoms but also EEG changes and two generalized seizures. On discontinuing vigabatrin therapy, the seizures resolved and the EEG improved, but the patient's clinical condition deteriorated to its pre-treatment state. A stable EEG without the recurrence of seizures as well as renewed improvement of cognitive and behavioural functions was achieved with a reduced vigabatrin dose of 25 mg/kg per day. We concludethat vigabatrin in SSADH deficiency should be administered in a gradually increasing dosage combined with frequent evaluation of the clinical condition and the EEG.

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Documento generato il 26/09/20 alle ore 17:57:03