Frequently Asked Questions

CTX is a metabolic disorder. It involves multiple organs, and the main manifestations vary in different ages. The neurological decline is most dominant in adults, which leads to significant impairment of physical and cognitive function and early death.

In addition to conducting a clinical review, which may involve a face-to-face discussion and physical examination of the patient, a healthcare professional may conduct a series of neurological tests, including magnetic resonance imaging (MRI) or an electroencephalogram (EEG). Neurological symptoms of CTX in children may include below-average intelligence, poor school performance, and cognitive disorder. However, because children are less likely than adults to have exhibited severe neurological symptoms at diagnosis, and are more likely to have chronic diarrhea, cataracts, or a history of jaundice as an infant, blood and urine tests are considered easy and reliable for diagnosing CTX in both children and adults.¹

The main neurological features of CTX are developmental delay, learning disabilities, epileptic seizures, partial paralysis, dementia or intellectual decline, problems with muscle coordination, Parkinson-like symptoms, and peripheral polyneuropathy.²

Early diagnosis is vitally important for managing the progression of neurological decline in patients with CTX. Beginning treatment as early as possible may help prevent the neurological damage and deteriorations in CTX.³

Visit our resources page for a list of advocacy and support organizations.

CTX is a genetic metabolic disorder caused by a mutation in the CYP27A1 gene. If a healthcare provider suspects CTX, he or she may refer the person for blood and urine tests, or genetic testing, which can confirm a diagnosis. Although practices differ from country to country, genetic testing is typically done via a simple blood draw after an initial test reveals high levels of cholestanol in the blood or bile alcohols in the urine. Visit your local healthcare provider if you have concerns.

Since CTX is an autosomal recessive inherited disorder it is possible that other family members may carry the mutated gene responsible for CTX. An affected person inherits two mutated genes, one from each parent. Blood test for cholestanol level and urine test for bile alcohol can help for the family screening. Genetic testing for family members may also be important because it can confirm whether they have the disease or are a carrier of the genetic condition. Asymptomatic family members may get detected from family screening and start the intervention at an early course for CTX.

It is common for diseases to affect people differently. The human body is complex and not everyone with a disease will experience the same symptoms at the same time.

The majority of infants and children with CTX will experience the most common symptoms, such as chronic diarrhea or bilateral cataracts. Long-term follow-up studies suggest that people who are diagnosed and treated during the early stages of CTX may not experience the more serious progressive neurological manifestations of the disease.²

Speak with a physician for more information about CTX.

Newborn screening is a blood test performed on infants just after they are born to identify whether the child has a potentially life-threatening disease. Not all diseases are screened for at birth. The diseases that are screened depend on a number of factors including governing laws regarding testing, the availability and cost of the test, and whether there is a treatment available.

Researchers are currently working to develop a newborn screening test for CTX. Early diagnosis is crucial for the management of CTX. If CTX is diagnosed early enough, proper treatment may potentially prevent severe mental disability and help promote a normal life expectancy.⁴

Newborn screening for CTX is in development.

If you are suspicious of or diagnosed with CTX, please seek advice from your local healthcare practitioners for professional consultation, as practice and referral systems vary from country to country.

Practice and referral patterns vary from country to country. You should speak with a local healthcare provider who may be able to recommend a specialist who is familiar with CTX.

CTX is a disease in which patients do not produce the necessary enzyme to maintain sufficient levels of primary bile acids. Long-term treatment with bile acid replacement is recommended and should be under the supervision of a healthcare professional.