Also Known As
HMSN 4HMSN type IVHSMN IVRefsum DiseaseRefsum diseaseRefsum disease, adult, 1Refsum disease, classicRefsum's diseaseadult Refsum diseaseadult Refsum disease due to PHYHclassic Refsum diseasehereditary motor and sensory neuropathy 4hereditary motor and sensory neuropathy type 4hereditary sensory and motor neuropathy type 4heredopathia atactica polyneuritiformishypertrophic neuropathy of Refsumphytanic acid oxidase deficiencyphytanic-CoA hydroxylase deficiencyDOC 11 (phytanic acid type)RDPARefsum disease with increased pipecolic acidemiadisorder of cornification 11 (phytanic acid type)
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.