Abstract
Bile acids are synthesized from cholesterol through 17 different enzymes located in different intracellular compartments of hepatocytes. Defects have been identified in the genes encoding the enzymes involved in the bile acid synthesis pathways and nine different diseases have been identified so far. In this review, four different biosynthetic pathway of bile acids together with disorders of bile acid synthesis is described. In inborn errors of bile acid synthesis clinical findings can range from liver failure to cirrhosis in infancy or progressive neuropathy in adolescence / adulthood. Laboratory analysis of urine profiling of bile acids is important in early diagnosis and early treatment.
Highlights
Bile acids are amphipathic molecules consisting of a 24-carbon steroid core and a carboxyl side chain [1,2]
Primary bile acids are synthesized by multistep enzymatic reactions involving 17 enzymes found in different intracellular compartments of the hepatocytes [4]
Pathways of Bile Acid Synthesis The primary bile acids are synthesized from cholesterol with a complex series of reactions involving 17 different enzymes found in endoplasmic reticulum, mitochondria, cytoplasm and peroxisomes [17]
Summary
Bile acids are amphipathic molecules consisting of a 24-carbon steroid core and a carboxyl side chain [1,2]. Pathways of Bile Acid Synthesis The primary bile acids are synthesized from cholesterol with a complex series of reactions involving 17 different enzymes found in endoplasmic reticulum, mitochondria, cytoplasm and peroxisomes [17]. Steroid side chain oxidation reactions take place by mitochondrial enzyme sterol 27-hydroxylase (CYP27A1), and followed by the removal of the propionyl group for the formation of C24 bile acids with peroxisomal β-oxidation [14]. 3.Yamasaki Pathway: C24 bile acids and 3β-hydroxy-5-cholestenoic acid in the Yamasaki pathway are formed in a similar way as in the alternative / acidic way After this step, the hydroxylation reaction carried out by the enzyme 7α-hydroxylase in humans produces 3β, 7α-dihydroxy-5-cholenoic acid. The conjugation reaction is mediated by two enzymes: Bile acid coenzyme A synthase (BACS) and bile acid CoA-amino acid N-acyltransferase (BAAT) [12]. (Figure 1)
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