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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).

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)