Article
Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency.
Gastroenterology - 1 May 2013
Setchell Kenneth D R, Heubi James E, Shah Sohela, Lavine Joel E, Suskind David, Al-Edreesi Mohammed, Potter Carol, Russell David W, O'Connell Nancy C, Wolfe Brian, Jha Pinky, Zhang Wujuan, Bove Kevin E, Knisely Alex S, Hofmann Alan F, Rosenthal Philip, Bull Laura N
Abstract excerpt
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...
Topics
- Acyltransferases
- Avitaminosis
- Bile Acids and Salts
- Biopsy
- Child
- Child, Preschool
- Coenzyme A Ligases
- DNA
- DNA Mutational Analysis
- Fatty Acid Transport Proteins