Cerebrotendinous xanthomatosis (CTX)


    In News

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

    About CTX

    • Data:
      • 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.