Cerebrotendinous xanthomatosis (CTX) is a rare, progressive and underdiagnosed bile acid synthesis disorder affecting many parts of the body.
In people with CTX, the body is unable to break down cholesterol properly causing toxins (e.g., cholestanol and bile alcohols) to build up throughout the body over time.
Signs and symptoms of CTX include neonatal cholestasis (jaundice or bile flow interruption), chronic diarrhea, the development of bilateral cataracts before the age of 18, development of tendon xanthomas (fatty deposits in the tendons) during teenage years or later, and neurologic deterioration. The types, combinations and severity of symptoms can be different from person to person, and making diagnosis challenging and often delayed.
The disorder is inherited in an autosomal recessive genetic manner, meaning that a child is affected when each parent passes on one copy of the mutated gene.
Laboratory: Oregon Health & Science University (OHSU)
Biochemical testing to help diagnose patients with cerebrotendinous xanthomatosis (CTX) at no cost to qualifying patients. The test measures levels of 7a, 12a-Dihydroxy-4-cholesten-3-one (7a12aC4) which is elevated in people with CTX.
Testing to help identify the genetic cause of early onset bilateral cataracts through a 66 gene panel.
Laboratory: Prevention Genetics
Genetic testing for pediatric patients with cholestasis or prolonged jaundice without a known cause. The test checks for 77 potential genetic causes of cholestasis.