علاج التهاب الشبكية الصباغي في متلازمة ريفسوم مع ارتفاع حمض الفيتانيك

References

• Refsum syndrome, an autosomal recessive disorder, was originally called heredopathia atactica polyneuritiformis, and more recently phytanic acid storage disease.
• Diagnosis is established by detection of phytanic acid in the plasma.
• Normal human plasma contains a trace of phytanic acid (less than 0.3 mg/dL) which is usually undetectable in routine analysis, whereas patients with Refsum syndrome have levels ranging from 10 to 30 mg/dL with 5 to 30% of the total fatty acids in plasma being phytanic acid.
• Treatment consists of elimination of dietary sources of phytanate and its precursors in order to reduce plasma and tissue levels of phytanic acid.
• Periodic plasmapheresis may be used as well to mobilize phytanic acid from body fat stores.