Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3294681 | Gastroenterology | 2013 | 17 Pages |
Abstract
Based on a study of 10 pediatric patients, genetic defects that disrupt bile acid amidation cause fat-soluble vitamin deficiency and growth failure, indicating the importance of bile acid conjugation in lipid absorption. Some patients developed liver disease with features of a cholangiopathy. These findings indicate that patients with idiopathic neonatal cholestasis or later onset of unexplained fat-soluble vitamin deficiency should be screened for defects in bile acid conjugation.
Keywords
Related Topics
Health Sciences
Medicine and Dentistry
Gastroenterology
Authors
Kenneth D.R. Setchell, James E. Heubi, Sohela Shah, Joel E. Lavine, David Suskind, Mohammed Al-Edreesi, Carol Potter, David W. Russell, Nancy C. O'Connell, Brian Wolfe, Pinky Jha, Wujuan Zhang, Kevin E. Bove, Alex S. Knisely, Alan F. Hofmann,