CARBAMYLPHOSPHATE SYNTHETASE DEFICIENCY IN AN INFANT WITH SEVERE CEREBRAL DAMAGE

A case is described of an infant with a deficiency of carbamylphosphate synthetase in liver and brain. The child died at the age of 7 1/2 months. Post-mortem examination showed extensive brain damage, particularly in the brain-stem and basal nuclei. Low activity of the urea cycle, due to carbamylphosphate synthetase deficiency, was shown to affect carbohydrate metabolism via decreased insulin secretion and inhibited glucokinase induction. The parents were unrelated. Of their four other children, two were normal, and two had died at the age of 4 weeks with identical symptoms. The family history suggests that carbamylphosphate synthetase deficiency is an inborn error of metabolism with a recessive inheritance.