Adrenoleukodystrophy
Adrenoleukodystrophy (ALD) is a hereditary (genetic) condition characterized by the impairment of the membrane (myelin sheath) that surrounds nerve cells in the brain.
In ALD, the body is unable to metabolize very long-chain fatty acids (VLCFAs), leading to the accumulation of saturated VLCFAs in the brain, nervous system, and adrenal gland.
The most prevalent form of ALD is X-linked ALD, which arises from a genetic anomaly on the X chromosome. This condition disproportionately affects males, while females typically serve as carriers.
Variants of X-linked ALD comprise:
- Childhood-onset ALD: Typically manifesting between ages 4 and 10, this variant involves progressive damage to the brain's white matter (leukodystrophy), with symptoms worsening over time. Left undiagnosed, childhood-onset ALD may result in death within five to 10 years.
- Addison's disease: In individuals with ALD, the adrenal glands may fail to produce sufficient steroids (adrenal insufficiency), leading to a subtype of X-linked ALD termed Addison's disease.
- Adrenomyeloneuropathy: This adult-onset form of X-linked ALD presents as a milder and slowly progressing condition, characterized by symptoms like a stiff gait and dysfunction of the bladder and bowels. Carriers of ALD, particularly women, may experience a mild form of adrenomyeloneuropathy.
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