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.

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Source: The Times Of India

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