Refsum disease
Refsum's disease
Patients affected with Refsum disease (RD) have elevated levels of phytanic acid due to a deficiency of the peroxisomal enzyme phytanoyl-CoA hydroxylase (PhyH).
Classification
infantile Refsum's disease is one of the mild phenotype of the peroxisome biogenesis disorders that have 12 complementation groups.
Etiology
mutations in the PHYH gene coding for phytanoyl-CoA hydroxylase (#14974078#)
mutations in the PEX7 gene at 6q22-24 (#12522768#)
Make a note