Adrenoleukodystrophy (ALD)
The term adrenoleukodystrophy encompasses two distinct genetic disorders; X-linked adrenoleukodystrophy and neonatal ALD. Both are characterized by varying degrees of adrenal involvement and demyelination.
Adrenoleukodystrophy (ALD) is a serious genetic disorder which progressively affects the adrenal gland, along with the white matter of the nervous system. In ALD, there is an abnormal accumulation of very long chain fatty acids, which causes tissue damage, however the exact nature of this relationship is not understood. This kind of illness is called a peroxisomal storage disease. ALD is an X-linked disorder which means it affects only males and is transmitted by a female carrier.
The first appearance of ALD varies. Usually it presents in boys of between 4 and 10 years of age, and the early signs include learning difficulties and perceptual problems, together with short- and long-term memory loss, various personality and behavioural changes, and symptoms of Attention Deficit Disorder.
It is common for boys with ALD to also have Addisons Disease, also known as adrenal insufficiency. This is a critical condition which may result in severe morbidity and mortality when undiagnosed or ineffectively treated. Once diagnosed, the treatment is relatively straightforward and usually requires lifelong hormone replacement.
ALD has an adult form, usually milder than the childhood condition. This illness is called adrenomyeloneuropathy (AMN).
Physical therapy, psychological support, special education, and visiting nurse services may be required to help the family cope with childhood ALD.
Treatment of ALD is still in the exploratory stage. The most promising treatments are:
- a diet restricted in very long chain fatty acids, and
- bone marrow transplant.
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