Cerebrotendinous xanthomatosis (CTX)

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Cerebrotendinous xanthomatosis (CTX)

Recently, Hyderabad researchers found a remedy to stop progression of rare genetic diseases.

About CTX

Only four CTX cases have so far been medically documented in India.

About the disease:

It is a lipid-storage skin disease with no known medical cure but its progression can be stopped.
It is a rare autosomal recessive genetic disorder caused by an abnormality in the CYP27A1 gene.
The lack of this enzyme prevents cholesterol from being converted into a bile acid called chenodeoxycholic acid.
It starts with diarrhoea in infancy and progresses to cataract in childhood and neurodegeneration in adolescence or adulthood.

Recent remedy

The doctors-researchers team stopped the disease progression by administering two capsules of cholic acid daily as a specific drug for three months and subsequent diagnosis showed that the levels of cholestenol (a chemical sterol that makes lipids) have decreased resulting in drastic control over juvenile diarrhoea.

Read Also: Red Crowned Roofed Turtle

Source: The Times Of India

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