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Overview of cholesterol metabolism and the biochemical abnormality in cerebrotendinous xanthomatosis

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This image shows the normal ("classical") metabolic pathway of cholesterol, which is mainly regulated by CYP27A1. The absence of this enzyme leads to a significant increase in activity in the cholestanol pathway, as well as an increase in upstream cholesterol metabolites. Chenodeoxycholic acid therapy inhibits CYP7A1, thereby halting utilization of the cholestanol pathway and accumulation of cholestanol metabolites in the CNS. (Source: Brlek P, Bulić L, Glavaš Weinberger D, et al. Successful treatment of a rare cholesterol homeostasis disorder due to CYP27A1 gene mutation with chenodeoxycholic acid therapy. Biomedicines 2023;11[5]:1430. Creative Commons Attribution 4.0 International [CC BY 4.0] license, creativecommons.org/licenses/by/4.0.)