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Cysteinyl leukotrienes (LTC, LTD, LTE) are potent lipid mediators derived from arachidonic acid in the 5-lipoxygenase pathway that exert profound biological effects. In this patient, inability to synthesise LTC suggests a deficiency of LTC synthase. This defect is a new inborn error of human elcosanoid metabolism and may be associated with the clinical disorder. Leukotriene analysis should be done in all patients with neurological symptoms who are candidates for metabolic disease. |
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