Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature

• Main Authors: Patryk Lipiński (Author), Maja Klaudel-Dreszler (Author), Elzbieta Ciara (Author), Dorota Jurkiewicz (Author), Rafał Płoski (Author), Joanna Cielecka-Kuszyk (Author), Piotr Socha (Author), Irena Jankowska (Author)
• Format: Book
• Published: Frontiers Media S.A., 2021-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Introduction: Inborn errors of primary bile acid (BA) synthesis are rare autosomal recessive disorders responsible for 1-2% of cases of neonatal cholestasis. Among them, cerebrotendinous xanthomatosis (CTX) is caused by mutations in the CYP27A1 gene resulting in the impairment of sterol 27-hydroxyla...