Late clinical presentation of partial carbamyl phosphate synthetase I deficiency
W. D. Lo, H. R. Sloan, J. F. Sotos and R. J. Klinger
Department of Pediatrics, Ohio State University, Children's Hospital, Columbus 43205.
OBJECTIVE--To describe the late manifestation of partial carbamyl phosphate
synthetase I deficiency in an adolescent whose previous symptoms were not
distinctive enough to suggest the presence of a metabolic disease. RESEARCH
DESIGN--Clinical description of one patient. SETTING--Primary care
children's hospital. PARTICIPANT--An adolescent boy. SELECTION
PROCEDURE--Random observation. INTERVENTIONS--Intravenous sodium benzoate
and sodium phenylacetate were more successful in reversing the coma than
any other intervention. MEASUREMENTS/MAIN RESULTS--The patient has had no
recurrence for 2 years, but he appears to have had a partial impairment of
cognitive functioning. CONCLUSIONS--General pediatricians and intensivists
should be aware that partial carbamyl phosphate synthetase I deficiency,
and other partial urea cycle disorders, may become manifest in adolescence,
even though they usually present in neonates or infants. When patients
present in hyperammonemic coma, the urea cycle disorders should be
considered, especially if no obvious cause is identified.
