ISSN:
1432-1076
Keywords:
Key words 3-Oxo-Δ4-steroid 5β-reductase deficiency
;
3-oxo-Δ4 bile acid
;
Immunoblot analysis
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract A 3-oxo-Δ4-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-Δ4 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 3-oxo-Δ4 bile acids constituted more than 70% of total urinary bile acids. However, the patient may possibly have had an inherited 5β-reductase deficiency.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s004310050835
Permalink
