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Titolo:
INHERITED DISORDERS OF GABA-METABOLISM
Autore:
JAKOBS C; JAEKEN J; GIBSON KM;
Indirizzi:
FREE UNIV AMSTERDAM HOSP,DEPT PEDIAT,DE BOELELAAN 1117 1081 HV AMSTERDAM NETHERLANDS UNIV HOSP GASTHUISBERG,DEPT PEDIAT B-3000 LOUVAIN BELGIUM BAYLOR RES INST,CTR METAB DIS DALLAS TX 00000 BAYLOR UNIV,CTR MED DALLAS TX 00000
Titolo Testata:
Journal of inherited metabolic disease
fascicolo: 4, volume: 16, anno: 1993,
pagine: 704 - 715
SICI:
0141-8955(1993)16:4<704:IDOG>2.0.ZU;2-P
Fonte:
ISI
Lingua:
ENG
Soggetto:
SEMIALDEHYDE DEHYDROGENASE-DEFICIENCY; GLUTAMIC-ACID DECARBOXYLASE; 4-HYDROXYBUTYRIC ACIDURIA; PRENATAL-DIAGNOSIS; VIGABATRIN THERAPY; SPASTIC PARAPLEGIA; SERUM CARNOSINASE; INBORN ERROR; HOMOCARNOSINOSIS; BRAIN;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
39
Recensione:
Indirizzi per estratti:
Citazione:
C. Jakobs et al., "INHERITED DISORDERS OF GABA-METABOLISM", Journal of inherited metabolic disease, 16(4), 1993, pp. 704-715

Abstract

Gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the mammalian central nervous system, is produced from glutamic acidin a reaction catalysed by glutamic acid decarboxylase. The sequential actions of GABA-transaminase (converting GABA to succinic semialdehyde) and succinic semialdehyde dehydrogenase (oxidizing succinic semialdehyde to succinic acid) allow oxidative metabolism of GABA through the tricarboxylic acid cycle. The inherited disorders of GABA metabolisminclude: (1) pyridoxine-dependent seizures (?glutamic acid decarboxylase deficiency) (> 50 patients); (2) GABA-transaminase deficiency (2 patients/1 family); (3) succinic semialdehyde dehydrogenase deficiency (32 patients/21 families); and (4) homocarnosinosis associated with serum carnosinase deficiency (3 patients/1 family). Homocarnosine is a brain-specific dipeptide of GABA and L-histidine. Of these four defects, definitive enzymatic diagnoses have been made only for GABA-transaminase and succinic semialdehyde dehydrogenase deficiencies. The presumptive mode of inheritance for all disorders is autosomal recessive, andall are associated with central nervous system dysfunction. Only succinic semialdehyde dehydrogenase deficiency manifests organic aciduria,which may account for the higher number of patients identified with this disorder; identification of additional patients with some of the other disorders will require increased request for analysis of cerebrospinal fluid metabolites by paediatricians and neurometabolic specialists.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/09/20 alle ore 02:11:25