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[Clinical feature and genetic analysis of a family affected by congenital bile acid synthesis defect type 2: identification of 2 novel mutations in AKR1D1 gene].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Jul 2017

Cheng Ying, Guo Li, Deng Mei, Song Yuan-Zong

Abstract excerpt

Congenital bile acid synthesis defect type 2 (CBAS2) is an autosomal recessive disorder caused by biallelic mutations of AKR1D1 gene, which encodes the Δ4-3-oxo-steroid 5β-reductase. Cholestatic jaundice is the main clinical manifestation, accompanied by malabsorption of fat and fat-soluble vitamins. This paper reported the clinical and genetic features of a CBAS2 patient definitely diagnosed by AKR1D1 genetic...

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PMID: 28697823
PMCID: PMC7389931

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