Phytanic acid oxidase deficiency
From Ganfyd
(Redirected from Refsum's disease)
Phytanic acid oxidase deficiency (Refsum's disease) is characterised by:
It is caused by either defects in:
- Phytanoyl-CoA hydroxylase (PAHX, or PHYH) gene at p11.2
- Peroxin-7 gene at 6q22-q24
Treatment
Low phytanic acid diet without animal fat and butter[1]
The eponym is from Sigvald Refsum (1907-1991)
