Cerebrotendinous xanthomatosis
id:
cerebrotendinous-xanthomatosis-177-12353664
title:
Cerebrotendinous xanthomatosis
text:
Cerebrotendinous xanthomatosis (CTX), also called cerebral cholesterosis, is a rare inborn bile acid metabolism disorder caused by autosomal-recessive mutations in the CYP27A1 gene. CTX is characterized by a wide range of symptoms, including neurological and non-neurological issues. The average age of symptom onset is 19 years, with central nervous system symptoms being the first indications. Neurological characteristics include Parkinsonism, epilepsy, dystonia, progressive ataxia, palatal myocl
brand slug:
wiki
category slug:
encyclopedia
description:
Genetic bile acid metabolism disorder
original url:
https://en.wikipedia.org/wiki/Cerebrotendinous_xanthomatosis
date created:
2006-08-26T12:31:12Z
date modified:
2024-09-04T02:19:48Z
main entity:
{"identifier":"Q2602467","url":"https://www.wikidata.org/entity/Q2602467"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/f/f1/Autosomal_recessive_-_en.svg","width":738,"height":1283}
fields total:
13
integrity:
16