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.Â
- 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.Â
- Recent remedyÂ
- 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.Â
Source:TOI
