Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency.

ABSTRACT:

Background & aims

The final step in bile acid synthesis involves conjugation with glycine and taurine, which promotes a high intraluminal micellar concentration to facilitate lipid absorption. We investigated the clinical, biochemical, molecular, and morphologic features of a genetic defect in bile acid conjugation in 10 pediatric patients with fat-soluble vitamin deficiency, some with growth failure or transient neonatal cholestatic hepatitis.

Methods

We identified the genetic defect that causes this disorder using mass spectrometry analysis of urine, bile, and serum samples and sequence analysis of the genes encoding bile acid-CoA:amino acid N-acyltransferase (BAAT) and bile acid-CoA ligase (SLC27A5).

Results

Levels of urinary bile acids were increased (432 ± 248 μm

SUBMITTER: Setchell KD 

PROVIDER: S-EPMC4175397 | biostudies-literature | 2013 May

REPOSITORIES: biostudies-literature