Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis.

ABSTRACT: Many inborn errors of metabolism affect pathways involved in the synthesis of a metabolite that has an important biochemical or physiological function, and adverse effects of the disorder can be attributed to the lack of this metabolite. Thus, there is the opportunity for treatment by 'product replacement'. One of the disorders in the pathways for the synthesis of bile acids from cholesterol, 3β-hydroxy-Δ5-C27-steroid dehydrogenase deficiency, causes cholestatic liver disease in infancy that can be treated very effectively with chenodeoxycholic acid (CDCA) and/or cholic acid (CA). There are several other enzyme deficiencies that can cause liver disease in infancy that improve with CDCA or CA or both (alongside a reduction of abnormal bile acids or alcohols); however, individuals with the s

SUBMITTER: Clayton PT 

PROVIDER: S-EPMC12374088 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature