Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

Abstract excerpt

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 failure to thrive. We report an infant who unexpectedly died at age 8 weeks with hepatic dysfunction and intracerebral hemorrhage. Characteristic of CBAS2, postmortem...

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