Heredopathia atactica polyneuritiformis (phytanic acid storage disease). A new case with special reference to dietary treatment.
A 33-year-old man with Refsum disease exhibited clinical features of night blindness, dysequilibrium, hearing loss, itchy dry skin, symmetrical polyneuropathy, distal muscle weakness, pes cavus, and hammer toe. His total serum protein was increased, nerve conduction velocities were slow, and serum phytanic acid levels were high. Dietary restriction of phytol resulted in a decrease in serum phytanic acid without any visual and autitory changes; however, coordination, skin lesions, and nerve conduction velocities definitely improved.
D000328:Adult; D001798:Blood Proteins; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D006801:Humans; D008297:Male; D009431:Neural Conduction; D010831:Phytanic Acid / Q000378:metabolism; D012035:Refsum Disease / Q000178:diet therapy* / Q000503:physiopathology
D001798:Blood Proteins; D010831:Phytanic Acid