Engelsk definition
An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES.
Svenska synonymer
Refsums syndrom — Refsum-Thiebauts syndrom — Heredopathia atactica polyneuritiformis
Engelska synonymer
Disease, Refsum — Refsum's Disease — Disease, Refsum's — Refsums Disease — Refsum's Syndrome — Refsums Syndrome — Syndrome, Refsum's — Refsum-Thiebaut Syndrome — Refsum Thiebaut Syndrome — Refsum-Thiebaut Syndromes — Syndrome, Refsum-Thiebaut — Syndromes, Refsum-Thiebaut — Refsum Syndrome — Syndrome, Refsum — Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency — Refsum Disease, Phytanoyl CoA Hydroxylase Deficiency — Refsum Disease, Phytanic Acid Oxidase Deficiency — Hereditary Motor And Sensory Neuropathy IV — HMSN 4 — HMSN IV — HMSN IVs — Hereditary Type IV Motor and Sensory Neuropathy — Neuropathy, Hereditary Motor and Sensory, Type IV — HMSN Type IV — Hereditary Motor and Sensory Neuropathy Type IV — Hereditary Motor and Sensory Neuropathy, Type IV — Adult Refsum Disease — Refsum Disease, Adult — Adult Refsum Diseases — Disease, Adult Refsum — Diseases, Adult Refsum — Refsum Diseases, Adult — Classic Refsum Disease — Refsum Disease, Classic — Classic Refsum Diseases — Disease, Classic Refsum — Diseases, Classic Refsum — Refsum Diseases, Classic — Heredopathia Atactica Polyneuritiformis — Polyneuritiformis, Heredopathia Atactica — Hemeralopia Heredoataxia Polyneuritiformis — Heredoataxia Polyneuritiformis, Hemeralopia — Polyneuritiformis, Hemeralopia Heredoataxia — Phytanic Acid Oxidase Deficiency — Phytanic Acid Storage Disease