《英文msh詞典》Refsums Syndrome
[入口詞] Refsums Syndrome
[主題詞] Refsum Disease
[英文釋義] An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY,sensorineural DEAFNESS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and cardiomyopathy. CEREBROSPINAL FLUID PROTEINS and serum PHYTANIC ACID are generally elevated. This condition is associated with the impaired metabolism of phytanic acid in PEROXISOMES. (From Joynt,Clinical Neurology,1991,Ch37,p58-9; Rev Med Interne 1996;17(5):391-8)