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defects in bile acid amidation

Tuesday 26 May 2009

Defective bile acid conjugation, which is characterized by a complete absence of glycine and taurine conjugates of bile acids in biological fluids and a predominance of unconjugated CA, with small proportions of sulfate and glucuronide conjugates, has been reported.

Fat-soluble vitamin deficiency is severe.

Until now, alterations in SLC27A5 gene encoding for VLCS or bile acid-CoA ligase have not been described in humans, therefore deficiency of this enzyme remains a hypothetical disorder.

However, as mice with deleted SLC27A5 do have the expected phenotype, the possibility of the existence of the corresponding metabolic disorder in humans can be expected.

More recently, a similar biochemical phenotype caused by a homozygous mutation in BAAT has been reported in Amish individuals with familial hypercholanemia, pruritus, and fat malabsorption.


- 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

- Bile acids: chemistry, physiology, and pathophysiology. Monte MJ, Marin JJ, Antelo A, Vazquez-Tato J. World J Gastroenterol. 2009 Feb 21;15(7):804-16. PMID: 19230041