Disease : Infantile Refsum disease

Name : Infantile Refsum disease
Description : It has characteristics in common with both Zellweger syndrome and neonatal adrenoleukodystrophy, but milder pathology and abnormalities. Symptoms: severe physical, sensory and developmental disabilities. However, IDR children usually attain some degree of motor, cognitive and comunication skills.
Gene(s) :
Localization(s) :
  • Cytosol
  • Peroxisomal membrane
  • Peroxisome
Functional category(ies) :
Links of Interest: