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Titolo:
SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFIC IENCY IN 2 SIBLINGS
Autore:
OPP J; RAAB K; JAKOBS C; LEHNERT W; GIBSON KM;
Indirizzi:
CNOPFSCHE KINDERKLIN,ST JOHANNIS MUHLGASSE 19 D-90419 NURNBERG GERMANY
Titolo Testata:
Monatsschrift fur Kinderheilkunde
fascicolo: 7, volume: 144, anno: 1996,
pagine: 695 - 698
SICI:
0026-9298(1996)144:7<695:SSDII2>2.0.ZU;2-U
Fonte:
ISI
Lingua:
GER
Soggetto:
GABA-METABOLISM; ACID;
Keywords:
SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; 4-HYDROXYBUTYRIC ACIDURIA; CASE REPORT; SPEECH RETARDATION; HYPOTONIA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
12
Recensione:
Indirizzi per estratti:
Citazione:
J. Opp et al., "SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFIC IENCY IN 2 SIBLINGS", Monatsschrift fur Kinderheilkunde, 144(7), 1996, pp. 695-698

Abstract

Succinic semialdehyde dehydrogenase deficiency (SSADH) is a rare inborn error of gamma-aminobutyric acid (GABA) metabolism. Genetic transmission is autosomal recessive. Clinical manifestations include psychomotor retardation, delayed speech development, hypotonia, ataxia, hyporeflexia and cerebral convulsions. We present 2 siblings in whom we could prove SSADH in cultured lymphocytes. An increased concentration of gamma-hydroxybutyric acid in the urine of one of the siblings was the decisive hint for the diagnosis. Both siblings (and a third sibling whodied before the diagnosis could be proved) showed all clinical features of the disease. In patients presenting with developmental and especially speech retardation, hypotonia and ataxia, SSADH should be suspected and the urine examined for gamma-hydroxybutyric acid. Therapy withvalproic acid and higher age of the patient can make it difficult to identify the gamma-hydroxybutyric acid.

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Documento generato il 26/09/20 alle ore 01:22:22