Adult Refsum disease
Adult Refsum disease
Definition
A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.
Also known as adult Refsum disease, adult Refsum disease due to PHYH, classic Refsum disease, hereditary motor and sensory neuropathy 4, hereditary motor and sensory neuropathy type 4, hereditary sensory and motor neuropathy type 4, heredopathia atactica polyneuritiformis, HMSN 4, HMSN type IV, HSMN IV, hypertrophic neuropathy of Refsum, phytanic acid oxidase deficiency, phytanic-CoA hydroxylase deficiency, Refsum Disease, Refsum disease, adult, 1, Refsum disease, classic, Refsum's disease — per MONDO