• 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