Nutritional and Metabolic Aspects of Heredopathia atactica polyneuritiformis (Refsum’s Syndrome)
作者:
W. Lenk,
期刊:
Annals of Nutrition and Metabolism
(Karger Available online 1974)
卷期:
Volume 16,
issue 6
页码: 366-374
ISSN:0250-6807
年代: 1974
DOI:10.1159/000175509
出版商: S. Karger AG
关键词: Review;Lipid metabolism;Nutrition;Hereditary disease;Enzyme defect;α-Oxidation
数据来源: Karger
摘要:
In this review on heredopathia atactica polyneuritiformis (Refsum’s syndrome), special emphasis is put on the nutritional and metabolic aspects of the genetically determined disease. In patients afflicted with Refsum’s syndrome, 3,7,11,15-tetramethylhexadecanoic (phytanic) acid is accumulated in the body lipids and in the plasma due to a partial defect in the α-oxidation mechanism. Phytanic acid which is present in the diet itself, is also readily formed in the organism from phytol ubiquitously present in foodstuffs. Biochemical and dietary studies have not yet elucidated whether the neurological symptoms of the disease are caused by high concentrations of phytanic acid or by a deranged metabolism of nerve ti
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