Disease : Neonatal adrenoleukodystrophy

Name : Neonatal adrenoleukodystrophy
Description : Neonatal adrenoleukodystrophy has many characteristics in common with Zellweger syndrome, but dysmorphic facial and skeletal abnormalities are less pronounced, and there is no calcification of cartilage. Symptoms: adrenal atrophy, degenerative changes of the white matter, dolicocephaly, prominent and high forehead, high level of pipecolic acid in serum. Men and women are equally affected. Levels of VLCFA in parents are normal.
Gene(s) :
Localization(s) :
  • Cytosol
  • Peroxisomal membrane
  • Peroxisome
Functional category(ies) :
Links of Interest: