Bile acid-CoA ligase and bile acid acyltransferase are the two enzymes involved in amidation of bile acids with either taurine or glycine. Individual case reports suggest that both enzyme deficiencies produce a similar phenotype. Reported cases feature onset, in infancy or early childhood, of fat soluble vitamin malabsorption and growth failure. Symptoms may be mild. The diagnosis is based on absence of glycine and taurine conjugates of bile acids in all biologic fluids. Liver disease is not well characterized. Liver morphology, studied in a few cases (Figure 6), consists of intralobular cholestasis with giant cell transformation and isolated hepatocyte necrosis in infants, and mild portal fibrosis in older children. Treatment with fat-soluble vitamins and conjugated bile acids may be beneficial.
References (for this page):
Setchell KD, Heubi JE, O'Connell C, Hofmann A, Lavine J. Identification of a unique inborn error in bile acid conjugation involving a deficiency in amidation. In: Paumgartner G, Strehl A, Gerok W, eds. Bile acids in hepatobiliary diseases: Basic research and clinical application. Boston: Kluwer Academic Publishers; 1997.
Barbarito E, Batta AK, Salen G, et al. High serum and urinary unconjugated bile acid concentrations are associated with homozygous mutation in bile acid coenzyme A: amino acid N-acyltransferase (BAAT). Gastroenterol, Supplement. 2003; p A60, Abstract # 461
