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X-linked adrenoleukodystrophy

Disease definition

A rare progressive peroxisomal disorder characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy, peripheral neuropathy and, variably, progressive leukodystrophy.


Classification level: Disorder
  • Synonym(s):
    • ALD
    • X-ALD
    • X-linked ALD
  • Prevalence: -
  • Inheritance: X-linked dominant 
  • Age of onset: Adolescent, Adult, Elderly, Childhood
  • ICD-10: E71.3
  • ICD-11: 5C57.1
  • OMIM: 300100  302700
  • UMLS: C0162309
  • MeSH: D000326
  • GARD: 5758
  • MedDRA: 10051260

Detailed information

General public


Disease review articles

Genetic Testing

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