Two patients with a deficiency of 3-hydroxy-3-\ud methylglutaryl coenzyme A (HMG-CoA) lyase have been\ud described? This enzyme catalyzes the final step of\ud leucine degradation and plays a key role in ketone body\ud formation. Clinically the defect is associated with metabolic\ud acidosis and hypoglycemia. The biochemical diagnosis\ud is based on the finding of abnormal organic aciduria\ud with highly increased urinary excretion of 3-hydroxy-3-methylglutaric acid, 3-methylglutaconic acid, 3-\ud methylglutaric acid, and 3-hydroxyisovaleric acid The\ud enzyme can be measured in various tissues, including\ud leukocytes and fibroblasts
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