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Publication Information
Affiliation
Department of Pathology and Laboratory Medicine, Children's Hospital Medical Center, Cincinnati, OH 45229, USA. kenneth.setchell@cchmc.org
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
Citation
Setchell KD, Heubi JE, Shah S, Lavine JE, Suskind D, Al-Edreesi M, Potter C, Russell DW, O'Connell NC, Wolfe B, Jha P, Zhang W, Bove KE, Knisely AS, Hofmann AF, Rosenthal P, Bull LN. Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency. Gastroenterology 2013 May;144(5):945-955.e6; quiz e14-5. Epub 2013 Feb 13.Abstract
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.