Ann Neurol. 2005 Dec;58(6):968-70.

A patient with neurological symptoms and abnormal leukotriene metabolism: a new defect in leukotriene biosynthesis.

Mayatepek E, Badiou S, Bellet H, Lehmann WD.

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Department of General Pediatrics, University Children's Hospital, Moorenstrasse 5, D-40225 Düsseldorf, Germany. mayatepek@uni-duesseldorf.de

Abstract

A 15-year-old male patient presented with mental retardation, mild motor impairment, and partial deafness. Biochemical investigations showed an abnormal urinary profile of leukotrienes. Concentration of leukotriene D(4) (LTD(4)), which is usually not detectable, was highly increased, whereas LTE(4), the major urinary metabolite in humans, was completely absent. These data suggest membrane-bound dipeptidase deficiency, a new defect in leukotriene biosynthesis on the step of LTE(4) synthesis, as underlying defect.

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