3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency: Postnatal management following prenatal diagnosis by analysis of maternal urine

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