Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment

Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment

Cerebrotendinous Xanthomatosis represents a rare and underdiagnosed inherited neurometabolic disorder due to homozygous or compound heterozygous variants involving the CYP27A1 gene. This bile acid metabolism disorder represents a key potentially treatable neurogenetic condition due to the wide spect...

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Bibliographic Details
Main Authors: Paulo Ribeiro Nóbrega, Anderson Moura Bernardes, Rodrigo Mariano Ribeiro, Sophia Costa Vasconcelos, David Augusto Batista Sá Araújo, Vitor Carneiro de Vasconcelos Gama, Helena Fussiger, Carolina de Figueiredo Santos, Daniel Aguiar Dias, André Luíz Santos Pessoa, Wladimir Bocca Vieira de Rezende Pinto, Jonas Alex Morales Saute, Paulo Victor Sgobbi de Souza, Pedro Braga-Neto
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-12-01
Series:Frontiers in Neurology
Subjects:
Cerebrotendinous Xanthomatosis
lipid storage disease
CYP27A1
chenodeoxycholic acid
inherited metabolic disorders
inborn errors of metabolism
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2022.1049850/full

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https://www.frontiersin.org/articles/10.3389/fneur.2022.1049850/full

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