Cerebrotendinous Xanthomatosis

Also known as

  • CTX
  • Sterol 27-hydroxylase deficiency
  • Cerebral cholesterinosis
  • Cholestanolosis
  • Van bogaert scherer epstein syndrome

CTX is caused by a mutation in a gene called CYP27A1, which produces an enzyme called sterol 27-hydroxylase. Sterol 27-hydroxylase is required to turn cholesterol into bile acids. When sterol 27-hydroxylase is not working properly, lipids (cholestanol and cholesterol)accumulates in the tissues.

Condition details

In infancy: •Diarrhoea •Cataracts •Psychomotor retardation •Pyramidal/cerebellar signs: pyramidal and cerebellar are parts of the brain/central nervous system In adulthood: •Neurologic dysfunction with variable time of onset •Mental retardation leading to dementia •Psychiatric symptoms, including behavioural changes, hallucinations, agitation, aggression, depression, suicide attempts •Cataracts •Optic disk paleness: paleness in a particular part of the eye •Premature retinal aging •Xanthomas:Skin lesions characterized by accumulations of lipid-laden cells. •Premature arteriosclerosis •Coronary artery diseases •Chronic intractable diarrhoea •Gallstones •Osteoporosis •Increased risk of bone fracture •Epileptic seizures •EEG abnormalities

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Photos of affected individuals

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  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Can manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult

Symptoms

Baby
Lay terms Clinical terms
  • Jaundice Epilepsy
  • Neonatal Hepatitis Epilepsy
Toddler
Lay terms Clinical terms
  • Diarrhoea Epilepsy
  • Diarrhoea Epilepsy
Child 4-10
Lay terms Clinical terms
  • Diarrhoea Cataracts Epilepsy
  • Diarrhoea Cataracts Cognitive Impairment Psychomotor retardation Epilepsy
Child 10-18
Lay terms Clinical terms
  • Diarrhoea Cataracts Difficulties in School
  • Diarrhoea Cataracts Cognitive Impairment Psychomotor retardation Pyramidal/cerebellar signs
Adult
Lay terms Clinical terms
  • Diarrhoea Cataracts Progressive disability Difficulty walking Intellectual disability Heart problems
  • Diarrhoea Cataracts Cognitive Impairment Psychomotor retardation Pyramidal/cerebellar signs Progressive neurological decline and disability Premature arteriosclerosis

Affected genes identified to date

  • CYP27A1

Inheritance patterns

Is Autosomal recessive

Someone with the condition will have two changed copies of the CTX gene, having inherited one from their mum and the other from their dad. Each full sibling of someone with CTX has a 1 in 4 (25%) chance of inheriting the condition.

Are carriers affected?

Carriers are not usually affected. Rarely some features of the condition have been reported in carriers.

How many are affected?

Estimated 1 in 50,000

Support groups and organisations

Tel
Facebook https://www.facebook.com/groups/471986799619145/
CLIMB (Children Living with Inherited Metabolic Diseases)
Tel
Facebook

Known experts

No experts found

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