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Diagnosis of the first Japanese patient with 3-oxo-Δ4-steroid 5β-reductase deficiency by use of immunoblot analysis

  • Gastroenterology/Hepatology
  • Published:
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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.

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Abbreviations

5β-reductase:

3-oxo-Δ4-steroid 5β-reductase

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Kimura, A., Kondo, K.H., Okuda, K.I. et al. Diagnosis of the first Japanese patient with 3-oxo-Δ4-steroid 5β-reductase deficiency by use of immunoblot analysis. Eur J Pediatr 157, 386–390 (1998). https://doi.org/10.1007/s004310050835

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  • DOI: https://doi.org/10.1007/s004310050835

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