Bile Acid Metabolism Errors That Frequently Occur

Bile Acid Metabolism Errors That Frequently Occur

It takes the liver at least 14 enzymatic steps to generate bile acids from cholesterol, and the process takes place in a complicated chain of events. The inability to carry out any of these processes will lead to a failure to create "normal bile acids" and the buildup of odd and intermediate bile acid metabolites due to the failure to carry out any of the reactions above. Bile acid production is impaired, which results in reduced bile flow and impaired intraluminal solubilization of fat and fat-soluble vitamins.

Inborn Errors of Bile Acid Metabolism 1. Deficiency of Δ4-3-oxosteroid-5β-reductase - It is also known as an autosomal recessive condition which leads to the defective synthesis of the bile acid steroid nucleus. 7α-Hydroxy-4-cholesten-3-one along with the 7α-12α-Dihydroxy-4cholesten-3-one is converted into 3-oxo-5β analogs by the enzyme AKR1D1.

2. Cerebrotendinous Xanthomatosis - Deficiency in mitochondrial sterol 27hydroxylase leads to alterations in side-chain of bile acids, which results in Cerebrotendinous xanthomatosis (CTX), an extremely uncommon autosomal recessive lipid storage condition.

3. D-Bifunctional Protein Deficiency - Abnormal peroxisomal fatty acid oxidation occurs when D-bifunctional protein is deficient. D-3-hydroxyacyl-CoA-dehydratase and D-3-hydroxyacyl-CoA-dehydrogenase are the two enzymes that make up the Dbifunctional protein. Depending on which protein subunit is compromised, there are three distinct types of D-bifunctional protein insufficiency.

A growing number of serious hepatic illnesses include defects in bile acid metabolism.

Diagnosing newborn cholestasis and chronic liver disease requires clinical suspicion. If identified early using the bile acid metabolites these problems may be efficiently treated with bile acid replacement treatment. These tests are currently only accessible in a few specialist referral labs. www.iroatech.com 734.265.0884