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Concept information

Preferred term

Adrenoleukodystrophy  

Type

  • Topical Descriptor

Entry terms

  • Addison Disease and Cerebral Sclerosis
  • Adrenoleukodystrophy, X-Linked
  • ALD (Adrenoleukodystrophy)
  • Bronze Schilder Disease
  • Leukodystrophies, Melanodermic
  • Leukodystrophy, Melanodermic
  • Melanodermic Leukodystrophy
  • Schilder Addison Complex
  • Schilder-Addison Complex
  • Siemerling Creutzfeldt Disease
  • Siemerling-Creutzfeldt Disease
  • X ALD
  • X-ALD
  • X ALD (X Linked Adrenoleukodystrophy)
  • X-ALD (X-Linked Adrenoleukodystrophy)
  • X Linked Adrenoleukodystrophy
  • X-Linked Adrenoleukodystrophy

Note

  • do not confuse with ADRENOLEUKODYSTROPHY, NEONATAL see PEROXISOMAL DISORDERS

Scope note

  • An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS).

History note

  • 1991(1983)

In other languages

URI

http://www.yso.fi/onto/mesh/D000326

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