American journal of medical genetics. Part A
Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?
Jade Hudson, Stephanie Hyunh, Bojana Rakic, Cornelius Boerkoel
Published: 202510.1002/ajmga.70025
Abstract
Biallelic pathogenic variants in AKR1D1 cause Δ4-3-oxosteroid 5β-reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and fail…
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