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Diagnosis of the first japanese patient with 3-oxo-Δ-steroid 5β- reductase deficiency by use of immunoblot analysis

European Journal of Pediatrics, ISSN: 0340-6199, Vol: 157, Issue: 5, Page: 386-390
1998
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Article Description

A 3-oxo-Δ-steroid 5β-reductase (5β-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 5β-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 5β-reductase. Urinary 3-OXO-Δ bile acids accounted for 88.3% of total bile acids, 5α-bile acids for 0.9%, and primary bile acids for 9.1%. Immunoblot analysis of the liver tissue showed an indistinct band of 5β-reductase. Conclusions These findings suggest that this patient had a secondary 5β-reductase deficiency, due to severe liver damage even though β-oxo Δ-bile-acids constituted more than 70%, of total urinary bile-acids. However, the patient may possibly have had an inherited 5β-reductase deficiency.

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