Successful treatment of severe carbamyl phosphate synthetase I deficiency.

We describe a girl with neonatal hyperammonaemia due to carbamyl phosphate synthetase I deficiency. Treatment consisted of protein restriction from the second day of life. Sodium benzoate was given for three weeks after birth and again from 7 months of age together with sodium phenylacetate to improve protein tolerance.

Hypoketosis as a cause of symptoms in childhood hypoglycemia.

Children with symptomatic hypoglycemia and asymptomatic hypoglycemia-prone children were shown to differ in the degree of ketosis after a 20 h fast. In the latter children the close negative correlation between ketone body levels and glucose levels yielded a regression line against which the former children's data could be compared. Half of the patients were found to be hypoketotic during hypoglycemia.