I'm wondering about the reasons behind CTX. What are the factors or conditions that lead to the development of CTX? I'm looking for a clear explanation of its causes.
5 answers
Carolina
Sun Oct 27 2024
In individuals with CTX, the deficiency of sterol 27-hydroxylase leads to a disruption in the normal conversion process of cholesterol.
SsangyongSpirit
Sun Oct 27 2024
Cerebrotendinous xanthomatosis (CTX) is a genetic disorder that is characterized by its rarity and autosomal recessive nature.
Claudio
Sun Oct 27 2024
Normally, cholesterol is converted into a bile acid called chenodeoxycholic acid, but in the absence of the enzyme, this conversion does not occur.
GangnamGlamour
Sun Oct 27 2024
The root cause of CTX is an abnormality in the CYP27A1 gene, which is responsible for encoding a specific mitochondrial enzyme.
Dario
Sun Oct 27 2024
This enzyme, known as sterol 27-hydroxylase, plays a crucial role in the metabolism of cholesterol.