Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 5/09/2006
Symbol RDPA
Location 10p15-p14
Name Refsum disease, adult
Other name(s) phytanic acid oxidase deficiency
Corresponding gene PHYH
related resource Retinal Information Network
Other symbol(s) ARD
Main clinical features
  • retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, elevated protein concentration in CSF, and pipecolic acidemia (peroxisomal defect, PHYH defect)
    • Genetic determination autosomal recessive
    Function/system disorder metabolism/lipoprotein-lipid
    eye
    Type disease
    Gene product
    Name peroxisomal phytanoyl-CoA hydroxylase (PHYH)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   truncated protein uncoupling substrate oxydation from that of 2 oxoglutarate