Phytanic Acid Storage Disease Definition


Phytanic Acid Storage Disease: 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)

Synonym: hmsn type iv, heredopathia atactica polyneuritiformis, hereditary-motor and sensory-neuropathy type iv, hereditary type iv motor and sensory neuropathy, hemeralopia heredoataxia polyneuritiformi, refsum-thiebaut syndrome, refsums syndrome, refsums disease, refsum syndrome, refsum disease, hereditary motor and sensory, type iv neuropathy.