Treatment of bile acid amidation defects with glycocholic acid
James E. Heubi, Kenneth D.R. Setchell, Pinky Jha, Donna Buckley, Wujuan Zhang, Philip Rosenthal, Carol Potter, Simon Horslen, David Suskind – 28 August 2014 – Bile acid amidation defects were predicted to present with fat/fat soluble vitamin malabsorption with minimal cholestasis. We identified and treated five patients (one male, four females) from four families with defective bile acid amidation due to a genetically confirmed deficiency in bile acid CoA:amino acid N‐acyl transferase (BAAT) with the conjugated bile acid, glycocholic acid (GCA).