PubMed ID:
23415802
Public Release Type:
Journal
Publication Year: 2013
Affiliation: Department of Pathology and Laboratory Medicine, Children's Hospital Medical Center, Cincinnati, OH 45229, USA. kenneth.setchell@cchmc.org
DOI:
https://doi.org/10.1053/j.gastro.2013.02.004
Authors:
Al-Edreesi M,
Bove KE,
Bull LN,
Heubi JE,
Hofmann AF,
Jha P,
Knisely AS,
Lavine JE,
O'Connell NC,
Potter C,
Rosenthal P,
Russell DW,
Setchell KD,
Shah S,
Suskind D,
Wolfe B,
Zhang W
Studies:
A Prospective Database of Infants With Cholestasis
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.