Article
SRD5B1 gene analysis needed for the accurate diagnosis of primary 3-oxo-Delta4-steroid 5beta-reductase deficiency.
Journal of gastroenterology and hepatology - 1 May 2009
Ueki Isao, Kimura Akihiko, Chen Huey-Ling, Yorifuji Tohru, Mori Jun, Itoh Susumu, Maruyama Kenichi, Ishige Takashi, Takei Hajime, Nittono Hiroshi, Kurosawa Takao, Kage Masayoshi, Matsuishi Toyojiro
Abstract excerpt
BACKGROUND AND AIM: We encounter hyper-3-oxo-Delta(4) bile aciduria in patients with severe cholestatic liver disease or fulminant liver failure during the neonatal period. However, simply by bile acid analysis, it is difficult to distinguish hyper-3-oxo-Delta(4) bile aciduria from primary 3-oxo-Delta(4)-steroid 5beta-reductase deficiency. METHODS: To determine whether 3-oxo-Delta(4)-steroid 5beta-reductase...
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