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Condition report · Neurological
An inherited disorder of bile acid production caused by changes in the CYP27A1 gene. Cholestanol builds up in the brain, tendons and lenses, causing childhood diarrhoea and cataracts and later neurological problems, and it is treatable.
A condition report looks for rare variants known to cause the conditions it covers.
Autosomal recessive
Deficiency of sterol 27-hydroxylase causes chronic diarrhoea and cataracts in childhood, tendon xanthomas, and later ataxia, spasticity, cognitive decline and white matter changes.
What a diagnosis changes
Treatment with chenodeoxycholic acid can prevent or slow neurological disease, especially when started early.
Genes analysed
Also known as
cholestanol storage disease; CTX; sterol 27-hydroxylase deficiency
One kit, sent to your home. Your entire genome sequenced at the clinical standard used for diagnostic decisions. Physician-ready reports delivered to your Genome Manager in 6–8 weeks — permanent and updated as science advances.
Free shipping · Results in 6–8 weeks
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