- Human pathology

Home > D. General pathology > Genetic and developmental anomalies > Genetic metabolic diseases > Refsum disease

Refsum disease

Tuesday 23 September 2003

Patients affected with Refsum disease (RD) have elevated levels of phytanic acid due to a deficiency of the peroxisomal enzyme phytanoyl-CoA hydroxylase (PhyH).


- infantile Refsum’s disease is one of the mild phenotype of the peroxisome biogenesis disorders that have 12 complementation groups.


- mutations in the PHYH gene coding for phytanoyl-CoA hydroxylase (14974078)
- mutations in the PEX7 gene at 6q22-24 (12522768)