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.
do not confuse with REFSUM DISEASE, INFANTILE
Other names Phytanic Acid Storage Disease; Neuropathy, Hereditary Motor and Sensory, Type IV; Heredopathia Atactica Polyneuritiformis; HMSN Type IV; Syndromes, Refsum-Thiebaut; Syndrome, Refsum-Thiebaut; Syndrome, Refsum's; Refsums Syndrome; Refsums Disease; Refsum-Thiebaut Syndromes; Refsum Thiebaut Syndrome; Refsum Syndrome; Refsum Disease, Phytanoyl CoA Hydroxylase Deficien; Polyneuritiformis, Heredopathia Atactica; Polyneuritiformis, Hemeralopia Heredoataxia; Heredoataxia Polyneuritiformis, Hemeralopia; Disease, Refsum's; Disease, Refsum; Refsum-Thiebaut Syndrome; Refsum's Syndrome
Substance
CAS Registry & name
Categories
Source
Neuropathy, hereditary motor and sensory, LOM type
