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COMMON ERRORS THAT OCCUR DURING BILE ACID METABOLISM
It takes the liver at least 14 enzymatic steps to generate bile acid metabolism from cholesterol, and the process takes place in a complicated chain of events.
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INBORN ERRORS OF BILE ACID METABOLISM DEFICIENCY OF Δ4-3-OXOSTEROID-5ΒREDUCTASE It is also known as an autosomal recessive condition which leads to the defective synthesis of the bile acid steroid nucleus. The enzyme AKR1D1 transforms 7-hydroxy-4-cholesterin-3-one and 7-12-Dihydroxy-4-cholesterin-3-one into 3-oxo-5 analogs. When this enzyme is lacking, the reduction of the double bond between C4 and C5 of the steroid nucleus is compromised. As a result, affected people have trace amounts of normal primary bile acids in their urine and plasma.
ZELLWEGER SYNDROME Inheritance of the ailment Zellweger syndrome is a kind of autosomal recessive disease that affects peroxisomal biosynthesis, which includes the bile acid production routes and other peroxisomal processes. The C27 bile acids dihydroxy cholestanol acid and trihydroxy cholestanol acid are betaoxidized in peroxisomes to generate the C24 main bile acids cholic acid and chenodeoxycholic acid.
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D-BIFUNCTIONAL PROTEIN DEFICIENCY Abnormal peroxisomal fatty acid oxidation occurs when Dbifunctional protein is deficient. D-3-hydroxyacyl-CoAdehydratase and D-3-hydroxyacyl-CoA-dehydrogenase are the two enzymes that make up the D-bifunctional protein. Depending on which protein subunit is compromised, there are three distinct types of D-bifunctional protein insufficiency. Individuals who suffer from type I deficiency are defective in dehydratase and dehydrogenase subunits.
CEREBROTENDINOUS XANTHOMATOSIS Deficiency in mitochondrial sterol 27-hydroxylase leads to alterations in side-chain of bile acids, which results in Cerebrotendinous xanthomatosis (CTX), an extremely uncommon autosomal recessive lipid storage condition. A decrease in oxidative capacity of the side-chain of cholesterol can increase synthesis and metabolism of cholesterol, more excretion of bile alcohol glucosides, and deviant accumulation of cholestanol and cholesterol in tissue, especially in the neurological system and cardiovascular system. Various mutations cause CTX in the sterol 27-hydroxylase gene CYP27A1, which is located on the long arm of chromosome 2.
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