Adrenoleukodystrophy
- Definition: a rare X-linked neurological disease usually seen in young men
Mnemonic
The name adrenoleukodystrophy means dystrophy (tissue wasting) of the adrenals and the white matter (leuko) of the nervous system.
- Inheritance: X-linked recessive disorder
- Epidemiology
- Rare
- Most often manifests in young boys
- Pathophysiology: mutation of the ABCD1 gene (located on chromosome X), which encodes a peroxisomal ATP-binding cassette (ABC) transporter protein
- Impaired transport of very long chain fatty acids (VLCFA) into peroxisomes
- Impaired β-oxidation of VLCFA results in accumulation of VLCFA in the adrenal glands, testes, and white matter.
- Neuron demyelination and destruction of adrenal and Leydig cells.
- Clinical features
- Cognitive impairment
- Progressive vision, hearing, and motor deterioration
- Dementia
- Adrenal insufficiency
- Coma
- Death
- Diagnostics
- Increased concentration of VLCFA in plasma
- Decreased adrenal function (↑ ACTH and ↓ cortisol)
- Brain MRI: occipitoparietal white matter demyelination