adult Refsum disease 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. COHD:4101333 Curator note: do not confuse with Infantial Refsum, see https://omim.org/entry/266500 DOID:10582 GARD:0004371 GARD:0005691 HMSN 4 HMSN type IV HSMN IV ICD10:G60.1 ICD9:272.8 ICD9:356.3 MESH:C535517 MESH:D012035 MONDO:0009958 MedDRA:10038275 OMIM:266500 OMIM:600964 Orphanet:773 RDPA Refsum disease Refsum disease with increased pipecolic acidemia Refsum disease, adult, 1 Refsum disease, classic Refsum's disease SCTID:25362006 UMLS:C1833022 classic Refsum disease disorder of cornification 11 (phytanic acid type) doc 11 (phytanic acid type) hereditary motor and sensory neuropathy 4 hereditary motor and sensory neuropathy type 4 hereditary sensory and motor neuropathy type 4 heredopathia atactica polyneuritiformis https://rarediseases.info.nih.gov/diseases/5691/refsum-disease hypertrophic neuropathy of Refsum phytanic acid oxidase deficiency phytanic-CoA hydroxylase deficiency rare hereditary metabolic disease with peripheral neuropathy autosomal recessive congenital ichthyosis autosomal ichthyosis syndrome with prominent neurologics signs disorder of peroxisomal alpha-, beta- and omega-oxidation leukodystrophy neurometabolic disease autosomal recessive metabolic cerebellar ataxia metabolic disease with dementia cataract associated with a metabolic disease metabolic disease with pigmentary retinitis