Catalog

Autonomic neuropathy due to Refsum’s Disease

No MMS code

Link to WHO Definition

Autonomic neuropathy due to Refsum’s Disease – http://id.who.int/icd/entity/63801476

This is an autosomal recessive disorder (mutations in genes: PHYH and PEX7) of peroxisomal function associated with accumulation of phytanic acid in plasma and tissues and characterised by retinitis pigmentosa, cerebellar ataxia, elevated spinal fluid protein.