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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.

See also

- bile acid metabolism anomalies

References

- 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#