[Heredopathia atactica polyneuritiformis. Hexadecanoic acid storage disease (Refsum's disease). Definition, treatment and pathogenesis. A short review].
Heredopathia atactica polyneuritiformis is a clinical-genetic-biochemical entity. It is therefore not a syndrome, but a nosological entity, a morbus sui generis and it is caused by a single autosomal gene. The importance of phytanic acid accumulation in this disease was first demonstrated by Klenk and Kahlke. To the author's knowledge no case with all the typical symptoms and signs of heredopathia atactica polyneuritiformis and without any atypical clinical features, has yet been reported without a concomitant disturbance of phytanic acid metabolism. The dietary treatment--(a low phytol, low phytanic acid diet)--was first proposed by Eldjarn, when the preliminary experimental results indicated that the phytanic acid was of exogenous origin. Whatever the biochemical mechanism is between accumulation of phytanic acid and clinical manifestations in heredopathia atactica polyneuritiformis, it appears that the observations made on patients following successful dietary treatment are convincing and leave little doubt that most, if not all, the manifestations in this disease are caused in some way by the accumulation of phytanic acid.
D001812:Blood-Brain Barrier; D004041:Dietary Fats / Q000008:administration & dosage; D006801:Humans; D009186:Myelin Sheath / Q000378:metabolism; D010831:Phytanic Acid / Q000378:metabolism; D012035:Refsum Disease / Q000175:diagnosis* / Q000178:diet therapy / Q000378:metabolism
D004041:Dietary Fats; D010831:Phytanic Acid
Heredopathia atactica polyneuritiformis. Hexadecan-Säure-Speicherkrankheit (Refsumsche Krankheit). Definition, Behandlung und Pathogenese. Eine kurze Ubersicht.