Disease : Refsum disease

Name : Refsum disease
Description : Characterised by an accumulation of phytanic acid in plasma and tissues. Symptoms: neurodegeneration, failure of muscle coordination, retinitis pigmentosa and bone and skin changes.
Gene(s) :
Localization(s) :
  • Cytosol
  • Peroxisome
Functional category(ies) :
Links of Interest: