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Two neonatal cholestasis patients with mutations in the SRD5B1 (AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatment.

Journal of inherited metabolic disease - 1 May 2013

Seki Yoshitaka, Mizuochi Tatsuki, Kimura Akihiko, Takahashi Tomoyuki, Ohtake Akira, Hayashi Shin-Ichi, Morimura Toshiya, Ohno Yasuharu, Hoshina Takayuki, Ihara Kenji, Takei Hajime, Nittono Hiroshi, Kurosawa Takao, Homma Keiko, Hasegawa Tomonobu, Matsuishi Toyojiro

Abstract excerpt

BACKGROUND AND AIMS: In two Japanese infants with neonatal cholestasis, 3-oxo-Δ(4)-steroid 5β-reductase deficiency was diagnosed based on mutations of the SRD5B1 gene. Unusual bile acids such as elevated 3-oxo-Δ(4) bile acids were detected in their serum and urine by gas chromatography-mass spectrometry. We studied effects of oral chenodeoxycholic acid treatment. PATIENTS AND METHODS: SRD5B1 gene analysis used...

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PMID: 23160874
DOI: 10.1007/s10545-012-9526-6

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