Primary 4-3-oxosteroid 5β-reductase deficiency：Two cases in China

• Published in: World journal of gastroenterology : WJG Vol. 18; no. 47; pp. 7113 - 7117
• Main Author: Zhao, Jing
• Format: Journal Article
• Language: English
• Published: United States Baishideng Publishing Group Co., Limited 21.12.2012
• Subjects: Bile Acids and Salts - urine; Case Report; China; DNA Mutational Analysis; Exons; Hepatomegaly - pathology; Heterozygote; Humans; Infant; Liver - metabolism; Male; Mutation; Oxidoreductases - deficiency; Oxidoreductases - genetics; Oxidoreductases - urine; Ursodeoxycholic Acid - therapeutic use; 中国内地; 基因分析; 基因组DNA; 外周血淋巴细胞; 小学; 缺乏症; 脂溶性维生素; 还原酶; China; Aldo-keto reductase 1D1; Bile acid therapy; Primary ∆4-3-oxosteroid 5β-reductase gene; Cholestasis; Bile acid synthetic defects

Aldo-keto reductase 1D1（AKR1D1） deficiency,a rare but life-threatening form of bile acid deficiency,has not been previously described in China.Here,we describe the first two primary 4-3-oxosteroid 5β-reductase deficiency patients in Mainland China diagnosed by fast atom bombardment-mass spectroscopy...