Dictionary of Human Evolution and Biology

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Adrenoleukodystrophy

Characterized by dementia, seizures, paralysis, los of speech, deafness, and blindness; neonatal death is usual, and inevitable by age

3. Variable symptoms: the X-linked form is less severe than the neonatal autosomal recessive form. The defect is in the ALD membrane transport protein; adrenal insufficiency causes an excess of long-chain fatty acids. Maps to Xq

28. The condition is associated with HLA DR3 and increases the relative risk of ALD to 6.3. ALD is rare, incidence 1:100 000. Aka Addison disease.

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