Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings

Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings

Abstract Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by pathogenic variants in the CYP27A1 gene encoding the mitochondrial enzyme sterol 27‐hydroxylase. Patients with CTX can present with a wide range of symptoms, but most often have evid...

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Bibliographic Details
Main Authors: Adam J. Guenzel, Andrea DeBarber, Kimiyo Raymond, Radhika Dhamija
Format: Article
Language:English
Published: Wiley 2021-05-01
Series:JIMD Reports
Subjects:
cerebrotendinous xanthomatosis (CTX)
cholestanol
genotype‐phenotype correlation
spinal xanthomatosis
sterols
xanthomas
Online Access:https://doi.org/10.1002/jmd2.12197

Internet

https://doi.org/10.1002/jmd2.12197

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