Pathophysiology and Treatment of Lipid Abnormalities in Cerebrotendinous Xanthomatosis: An Integrative Review

Pathophysiology and Treatment of Lipid Abnormalities in Cerebrotendinous Xanthomatosis: An Integrative Review

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder caused by pathogenic variants in <i>CYP27A1</i>, leading to a deficiency in sterol 27-hydroxylase. This defect results in the accumulation of cholestanol and bile alcohols in various tissues, including the brain, ten...

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Bibliographic Details
Main Authors: Rodrigo Mariano Ribeiro, Sophia Costa Vasconcelos, Pedro Lucas Grangeiro de Sá Barreto Lima, Emanuel Ferreira Coelho, Anna Melissa Noronha Oliveira, Emanuel de Assis Bertulino Martins Gomes, Luciano de Albuquerque Mota, Lucas Soares Radtke, Matheus dos Santos Carvalho, David Augusto Batista Sá Araújo, Maria Suelly Nogueira Pinheiro, Vitor Carneiro de Vasconcelos Gama, Renan Magalhães Montenegro Júnior, Pedro Braga Neto, Paulo Ribeiro Nóbrega
Format: Article
Language:English
Published: MDPI AG 2023-06-01
Series:Brain Sciences
Subjects:
cerebrotendinous xanthomatosis
cholestanol
cholesterol
lipid
chenodeoxycholic acid
Online Access:https://www.mdpi.com/2076-3425/13/7/979

Internet

https://www.mdpi.com/2076-3425/13/7/979

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