Publications by authors named "Thrupthi Km"
Article Synopsis
- Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder related to bile acid metabolism, primarily caused by CYP27A1 gene mutations, with unique symptoms reported in Indian patients.
- Case studies of nine Indian patients demonstrated a range of clinical features, with most displaying neurobehavioral issues and a high incidence of cataracts, while finding less prevalence of parkinsonism and dystonia compared to other regions.
- The study emphasizes the necessity for better access to effective treatments like chenodeoxycholic acid, as many patients are receiving inadequate care due to genetic testing limitations and a lack of available therapies in the region.