bile acid-CoA ligase deficiency
Tuesday 3 January 2012
The SLC27A5 amidation defect may contribute to cholestatic liver disease in the setting of prematurity, parenteral nutrition, and homozygosity for an ABCB11 mutation.
bile acid metabolism anomalies
Bile acid-CoA ligase deficiency-a new inborn error of bile acid metabolism. Chong CP, Mills PB, McClean P, Gissen P, Bruce C, Stahlschmidt J, Knisely AS, Clayton PT. J Inherit Metab Dis. 2011 Nov 17. PMID: #22089923#