This website provides information on patients with mutations in the CYP27A1 gene, including clinical data, molecular data, management, and research options.

The syndrome caused by mutations in the CYP27A1 gene is a multi-system disorder characterized by excessive accumulation of cholesterol and cholestanol in lipophilic tissues such as the central nervous system, eyes, and tendons. Thus the syndrome is named cerebrotendinous xanthomatosis (CTX). It can manifest as neonatal cholestasis, persistent diarrhea, developmental delay, bilateral idiopathic cataracts, intellectual disability, skin and tendon xanthomas, progressive ataxia, speech impairment, psychiatric symptoms, and sometimes seizures.

Importantly, not all individuals with a mutation in the CYP27A1 gene have these features.

This is why we aim to share and collect information about the clinic, management, and research projects to gather more knowledge and provide better treatment of patients with mutations in the CYP27A1 gene.

Adam Sebastian Hirschfeld, MD, Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland, hirschfeld@protonmail.com

Magdalena Badura-Stronka, MD, PhD, Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland, m.badura-stronka@genesis.pl