Adrenoleukodystrophy (Q41172)

From determinar.ia.br - Determine suas informações
X-linked genetic disorder associated with accumulation of very-long-chain fatty acids in the brain and adrenal cortex due to a mutation in the ABCD1 gene causing defects in peroxisomal oxidation. Neurological symptoms can present in childhood or adulthood with almost all patients having concurrent adrenal insufficiency.
Language Label Description Also known as
default for all languages
8A44.1
    English
    Adrenoleukodystrophy
    X-linked genetic disorder associated with accumulation of very-long-chain fatty acids in the brain and adrenal cortex due to a mutation in the ABCD1 gene causing defects in peroxisomal oxidation. Neurological symptoms can present in childhood or adulthood with almost all patients having concurrent adrenal insufficiency.

      Statements

      CID11:8A44.1
      0 references
      dki-india-8A44.1
      0 references
      Concluído
      0 references
      13 August 2026
      0 references
      0 references