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Titolo:
DIAGNOSIS OF THE FIRST JAPANESE PATIENT WITH 3-OXO-DELTA(4)-STEROID 5-BETA-REDUCTASE DEFICIENCY BY USE OF IMMUNOBLOT ANALYSIS
Autore:
KIMURA A; KONDO KH; OKUDA KI; HIGASHI S; SUZUKI M; KUROSAWA T; TOHMA M; INOUE T; NISHIYORI A; YOSHINO M; KATO H; SETOGUCHI T;
Indirizzi:
KURUME UNIV,SCH MED,DEPT PAEDIAT & CHILD HLTH,67 ASAHI MACHI KURUME FUKUOKA 830 JAPAN MIYAZAKI MED COLL,DEPT SURG 1 MIYAZAKI 88916 JAPAN HLTH SCI UNIV HOKKAIDO,FAC PHARMACEUT SCI SAPPORO HOKKAIDO JAPAN
Titolo Testata:
European journal of pediatrics
fascicolo: 5, volume: 157, anno: 1998,
pagine: 386 - 390
SICI:
0340-6199(1998)157:5<386:DOTFJP>2.0.ZU;2-G
Fonte:
ISI
Lingua:
ENG
Soggetto:
HUMAN BIOLOGICAL-FLUIDS; BILE-ACID METABOLISM; DELTA(4)-3-OXOSTEROID 5-BETA-REDUCTASE; DELTA-4-3-OXOSTEROID 5-BETA-REDUCTASE; CEREBROTENDINOUS XANTHOMATOSIS; HEMOCHROMATOSIS; MUTATIONS; ENZYME; URINE;
Keywords:
3-OXO-DELTA(4)-STEROID 5-BETA-REDUCTASE DEFICIENCY; 3-OXO-DELTA(4) BILE ACID; IMMUNOBLOT ANALYSIS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
23
Recensione:
Indirizzi per estratti:
Citazione:
A. Kimura et al., "DIAGNOSIS OF THE FIRST JAPANESE PATIENT WITH 3-OXO-DELTA(4)-STEROID 5-BETA-REDUCTASE DEFICIENCY BY USE OF IMMUNOBLOT ANALYSIS", European journal of pediatrics, 157(5), 1998, pp. 386-390

Abstract

A 3-oxo-Delta(4)-steroid 5 beta-reductase (5 beta-reductase) deficiency is difficult to diagnose because severe liver damage can result in a similar pattern of metabolite excretion. We investigated the usefulness of immunoblot analysis for diagnosis of 5 beta-reductase deficiency and quantitatively analysed urinary bile acids by gas chromatography-mass spectrometry in a 5-month-old Japanese boy with severe neonatal cholestasis associated with hypertyrosinaemia. A liver sample was examined by immunoblot analysis using monoclonal antibodies against 5 beta-reductase. Urinary 3-oxo-Delta 4 bile acids accounted for 88.3% of total bile acids, 5 alpha-bile acids for 0.9%, and primary bile acids for 9.1%. Immunoblot analysis of the liver tissue showed an indistinct band of 5 beta-reductase. Conclusions These findings suggest that this patient had a secondary 5 beta-reductase deficiency due to severe liver damage, even though 3-oxo-Delta(4) bile acids constituted more than 70% of total urinary bile acids. However, the patient may possibly have had an inherited 5 beta-reductase deficiency.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 12/07/20 alle ore 09:03:58