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X-linked adrenoleukodystrophy

Disease definition

X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.

ORPHA:43

Classification level: Disorder
  • Synonym(s):
    • ALD
    • X-ALD
    • X-linked ALD
  • Prevalence: 1-9 / 100 000
  • Inheritance: X-linked recessive 
  • Age of onset: All ages
  • ICD-10: E71.3
  • OMIM: 300100  302700
  • UMLS: C0162309
  • MeSH: D000326
  • GARD: 5758
  • MedDRA: 10051260

Detailed information

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.