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[Refsum's disease. Epidemiologic, clinical and biological correlation. 6 cases]
Revue Neurologique
|January 1, 1986
Summary
This study investigates Refsum's disease, a metabolic disorder. Dietary treatment improved patient condition by reducing phytanic acid levels, though challenges like unpalatability and fat mobilization exist.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Refsum's disease is a rare genetic disorder characterized by the accumulation of phytanic acid.
- Phytanic acid accumulation is linked to low phytanic acid oxidase activity.
- The disease's prevalence in Northern France suggests a Scandinavian genetic origin, possibly spread by Vikings.