Congenital bile acid synthesis defect

Definition:

Congenital bile acid synthesis defects (CBAS) involve congenital deficiencies in enzymes responsible for catalyzing key reactions in bile acid synthesis. CBAS type 1, 2 ,3 and 4 are due to mutations in HSD3B7, AKR1D1, CYP7B1, and AMACR, respectively. Inherited mutations that impair bile acid synthesis cause a spectrum of human disease ranging from liver failure in early childhood to progressive neuropathy in adults.

References:

[1]. Maria J Monte, et al. ACOX2 deficiency: An inborn error of bile acid synthesis identified in an adolescent with persistent hypertransaminasemia. J Hepatol. 2017 Mar;66(3):581-588. [Content Brief]

[2]. S W C van Mil, et al. Genetics of familial intrahepatic cholestasis syndromes. J Med Genet. 2005 Jun;42(6):449-63. [Content Brief]

[3]. Sacha Ferdinandusse, et al. A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3. Hum Mol Genet. 2015 Jan 15;24(2):361-70. [Content Brief]

[4]. Shikha S Sundaram, et al. Mechanisms of disease: Inborn errors of bile acid synthesis. Nat Clin Pract Gastroenterol Hepatol. 2008 Aug;5(8):456-68. [Content Brief]

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