CTX causes a distinct array of clinical manifestations

Cerebrotendinous xanthomatosis (CTX) is a rare and underdiagnosed metabolic disorder^1-3

CTX is a bile deficiency that is inherited in an autosomal recessive fashion.² Mutations in the CYP27A1 gene lead to an abnormal buildup of cholesterol and cholestanol throughout the body.^2,4,5

There are several signs and symptoms common in CTX^3,6

Chronic diarrhea, idiopathic bilateral cataracts and tendon xanthomas are common in CTX. In some patients, neonatal cholestasis may be the earliest manifestation.^3,6

Untreated CTX may progress to irreversible neurologic problems^3,6

Without early diagnosis and management, neurologic problems can progress, leading to physically disabling neurological dysfunction, psychiatric disturbances, intellectual disability, and even dementia.^3,6,7