XALD

X-linked adrenoleukodystrophy(English)

  • the most common metabolic disorder characterized by impaired peroxisomal beta-oxidation. Caused by mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long-chain fatty acids (VLCFA; =C22). A defect in ALDP results in elevated levels of VLCFA in plasma and tissues. The clinical spectrum in males ranges from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination. The majority of heterozygous females will develop symptoms by the age of 60 years. In individual patients the disease course remains unpredictable
  • BCD1, ALDP, ALD, VLCFA
  • Congenital disorders, Metabolism, Brain (dys)function
  • https://doi.org…/1750-1172-7-51