Assays / Genetic Enzymes / X-Linked Adrenoleucodystrophy and Adrenomyeloneuropathy

The most common form of X-ALD is the childhood cerebral form in which the early signs at age 3-10 years are behavioural changes such as emotional outbursts, declining school performance and memory loss. Later there are visual and auditory problems, poor motor co-ordination, seizures and skin pigmentation due to adrenal insufficiency. In adrenomyeloneuropathy (AMN) onset is in the third decade and there is a slower course with involvement of the nerves rather than the brain. Some female carriers of X-ALD develop similar symptoms to those seen in AMN males. Other rarer forms of X-ALD include adolescent and adult cerebral forms and an Addison disease-only form.

Enzyme Tests: Very long chain fatty acids are measured for diagnosis of all forms of this disease.

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