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Information for patients, their families and helpers

The facts: Diagnosis

There are a few other rare conditions with a raised phytanic acid level but these are usually present at birth or early infancy and may be associated with severe multiple abnormalities. Sometime they are called infantile Refsum's disease but they do not have the same cause or genetic abnormality as adult Refsum's disease.

Patients with adult Refsum's disease usually present to a doctor with visual symptoms and are diagnosed as having retinitis pigmentosa. Adult Refsum's disease should be considered in all such cases even though the likelihood is small. If the patient has poor sensation for smell adult Refsum's disease becomes much more likely and the blood phytanic acid level should always be measured. If the patient also has a short digit and neurological symptoms or signs in the legs then adult Refsum's disease is very likely.

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Page last updated 26 June 2006