Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis

Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis

Background: Cerebrotendinous xanthomatosis (CTX) is an inborn disorder of bile acid synthesis which causes progressive accumulation of toxic metabolites in various organs, particularly in brain and tendons. Most cases are diagnosed and treated in the second or third decade of life, when neurological...

Full description

Bibliographic Details
Main Authors: Irene Degrassi, Chiara Amoruso, Giuseppe Giordano, Marina Del Puppo, Andrea Mignarri, Maria Teresa Dotti, Mauro Naturale, Gabriella Nebbia
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-07-01
Series:Frontiers in Pediatrics
Subjects:
inborn errors of bile acid metabolism
cerebrotendinous xanthomatosis
neonatal cholestasis
chenodeoxycholic acid
CYP27A1 gene
cholestanol
Online Access:https://www.frontiersin.org/article/10.3389/fped.2020.00382/full

Internet

https://www.frontiersin.org/article/10.3389/fped.2020.00382/full

Similar Items