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

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

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...

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Main Authors: Patryk Lipiński, Maja Klaudel-Dreszler, Elzbieta Ciara, Dorota Jurkiewicz, Rafał Płoski, Joanna Cielecka-Kuszyk, Piotr Socha, Irena Jankowska
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-01-01
Series:Frontiers in Pediatrics
Subjects:
neonatal cholestasis
sterol 27-hydroxylase (CYP27A1)
next-generation sequencing
chenodeoxycholic acid (CDCA)
liver transplantation
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2020.616582/full

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https://www.frontiersin.org/articles/10.3389/fped.2020.616582/full

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