Cerebrotendinous xanthomatosis (CTX)
#GS-03 Science and Technology
Cerebrotendinous xanthomatosis (CTX):
- Cerebrotendinous xanthomatosis is a disorder characterized by abnormal storage of fats (lipids) in many areas of the body.
- The CTX is a lipid storage disease characterised by infantile-onset of diarrhoea, childhood-onset of cataract, and adolescent-to adult onset of progressive neurologic dysfunctions.
- Neuropsychiatric symptoms such as behavioral changes, hallucinations, agitation, aggression, depression, and suicide attempts may be prominent.
- There are only four such cases in the country, all diagnosed in adulthood after the onset of serious neurological conditions with morbidity and mortality.
- While there is no cure for CTX, its progression can be slowed or stopped if detected early by genetic testing, leading to administration of ‘precision medicine’.
- Targeted Cholic acid treatment for three months and subsequent diagnosis showed ‘cholestenol’ levels decreasing resulting in 70% improvement in ophthalmological evaluation.
- The biochemical abnormalities that distinguish CTX from other conditions with xanthomas include high plasma and tissue cholestanol concentration, normal-to-low plasma cholesterol concentration, decreased chenodeoxycholic acid (CDCA), increased concentration of bile alcohols and their glyconjugates, and increased concentrations of cholestanol and apolipoprotein B in cerebrospinal fluid.
- The Genome Foundation, Hyderabad and the Dermatology Association, Telangana have announced the successful result of a precision medicine for Cerebrotendinous xanthomatosis.