[Refsum's disease: 10 years of a diet low in phytanic acid and phytol].
The authors report the evolution of two cases of Refsum's disease, treated with a specific phytol and phytanic acid diet for ten years. This treatment is effective leading to a rapid and stable fall of phytanemia, and a progressive improvement of the peripheral neuropathy and cerebellous symptoms, then prevent from quite new aggravation. Any symptom in favour of a cardiac, pulmonary or renal disease was observed during the past ten years. On the other hand, the sight and hearing disorders remained unchanged and are responsible to a major discomfort in this long-dated evolution. The strict liquid diet is quickly abandoned on account of a bad tolerance (diarrhea), but the ordinary diet is better endured, and is sufficient to keep a low phytanemia; this need a permanent continuation.
D000328:Adult; D004224:Diterpenes / Q000008:administration & dosage*; D004537:Eicosanoic Acids / Q000008:administration & dosage*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D010831:Phytanic Acid / Q000008:administration & dosage*; D010836:Phytol / Q000008:administration & dosage*; D011379:Prognosis; D012035:Refsum Disease / Q000178:diet therapy*
D004224:Diterpenes; D004537:Eicosanoic Acids; D010831:Phytanic Acid; D010836:Phytol
Maladie de Refsum: Dix ans de régime diététique pauvre en acide phytanique et phytol.