Phytanic acid is a derivative of the phytol side-chain of chlorophyll. It appears in humans following the ingestion of fat-containing foods and is present in human blood at a low micromolar ...
A defect in phytanic acid oxidation was demonstrated in cultured fibroblasts derived from skin biopsies of 11 patients with Refsum's disease (heredopathia atactica polyneuritiformis, or HAP). The ...
Infantile Refsum disease (IRD), a peroxisomal disease with defective phytanic acid oxidation, causes neurological impairment and development delay. Insulin-like growth factor-1 (IGF-1) regulates child ...
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