HYPERURICEMIA AS GUIDING SYMPTOM FOR MEDI UM-CHAIN ACYL-CO-A DEHYDROGENASE-DEFICIENCY

Between 1991 and 1996 three cases of MCAD-deficiency (medium-chain-acy l-Co-A dehydrogenase deficiency) were diagnosed in the Vestische Kinde rklinik. All patients showed hypoketotic hypoglycaemia with hyperurica emia. In the group of hypoketotic hypoglycaemia without lactat acidosi s MCAD-deficiency is the only metabolic disease presenting regularly w ith hyperuricaemia. Thus, hyperuricaemia in a patient with hypoketotic hypoglycaemia is a strong indicator for MCAD-deficiency, Measurement of uric acid is easily available before sophisticated metabolic analys is are completed.