Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
A FLUOROMETRIC ASSAY FOR SUCCINIC SEMIALDEHYDE DEHYDROGENASE-ACTIVITYSUITABLE FOR PRENATAL-DIAGNOSIS OF THE ENZYME DEFICIENCY
Autore:
THORBURN DR; THOMPSON GN; HOWELLS DW;
Indirizzi:
ROYAL CHILDRENS HOSP,MURDOCH INST RES BIRTH DEFECTS PARKVILLE VIC 3052 AUSTRALIA
Titolo Testata:
Journal of inherited metabolic disease
fascicolo: 6, volume: 16, anno: 1993,
pagine: 942 - 949
SICI:
0141-8955(1993)16:6<942:AFAFSS>2.0.ZU;2-T
Fonte:
ISI
Lingua:
ENG
Soggetto:
CULTURED HUMAN-LYMPHOBLASTS; 4-HYDROXYBUTYRIC ACIDURIA; INBORN ERROR; METABOLISM;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
16
Recensione:
Indirizzi per estratti:
Citazione:
D.R. Thorburn et al., "A FLUOROMETRIC ASSAY FOR SUCCINIC SEMIALDEHYDE DEHYDROGENASE-ACTIVITYSUITABLE FOR PRENATAL-DIAGNOSIS OF THE ENZYME DEFICIENCY", Journal of inherited metabolic disease, 16(6), 1993, pp. 942-949

Abstract

Succinic semialdehyde dehydrogenase (SSAD) is an enzyme involved in the turnover of the neurotransmitter 4-aminobutyrate (GABA). Deficiencyof SSAD results in developmental delay, ataxia, seizures and 4-hydroxybutyric aciduria. We have developed a simple fluorimetric assay for the enzyme and applied it to measurement of SSAD activity in a range ofcell types often used for prenatal and postnatal diagnosis of enzyme defects. Lymphocytes from children with SSAD deficiency were found to have <5% of the activity found in lymphocytes from normal children. Heterozygotes are asymptomatic and have intermediate enzyme activities. Although SSAD activity has been detected previously in uncultured chorionic villi, we found that SSAD was not expressed in cultured chorionic villus cells nor in some fibroblast-like amniocytes from control fetuses. Lymphocytes from fetal blood and non-fibroblastic amniocytes have high SSAD activities, and should be suitable for prenatal diagnosis of SSAD deficiency.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/09/20 alle ore 01:31:32