Abstract
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
... read more