Inborn error in primary bile acid synthesis

Condition: Inborn error in primary bile acid synthesis

Inborn errors related to primary bile acid synthesis can cause profound metabolic consequences, such as chronic cholestasis, metabolic liver disease, and impaired fatty acid absorption. These disorders are inherited autosomal recessive conditions associated with defective bile acid synthesis, and oftentimes, they are misdiagnosed or overlooked when evaluating patients for liver or fat malabsorptive disorders.

Examples of these disorders include:

• Bile Acid Synthesis Disorders – These disorders occur when there is decreased or absent activity of a specific enzyme involved in the bile acid synthesis pathway. Common conditions include 3-beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency, 3-oxoacyl-CoA synthetase deficiency, and cholesterol 7 alpha-hydroxylase deficiency.
• Bile Acid Synthesis Transporter Deficiency – This condition occurs when the body is unable to transport bile acids into cells or the bile acid transporter is not working properly. Common conditions include Dubin-Johnson Syndrome and ATP8B1-associated cholestasis.
• Bile Acid Deficiencies – These disorders occur when the body is not able to produce enough bile acids. Common conditions include farnesoid X receptor deficiency and progressive familial intrahepatic cholestasis.

The diagnosis of inborn error in primary bile acid synthesis can be made by detailed laboratory investigations, such as metabolic screening tests, complete blood count, liver function tests, and bile acid analysis. Treatment of these disorders is based on the individual patient’s condition and may include medications, dietary modifications, and in some cases, a liver transplant.

Conclusion

Inborn errors in primary bile acid synthesis can have profound metabolic consequences, but through detailed laboratory investigations and patient-specific treatment plans, these disorders can be managed effectively.