Late clinical presentation of partial carbamyl phosphate synthetase I deficiency.
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.


METHODS
Clinical description of one patient.


METHODS
Primary care children's hospital.


METHODS
An adolescent boy.


METHODS
Random observation.


METHODS
Intravenous sodium benzoate and sodium phenylacetate were more successful in reversing the coma than any other intervention.


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.
Lo
W D
WD
Department of Pediatrics, Ohio State University, Children's Hospital, Columbus 43205.
Sloan
H R
HR
Sotos
J F
JF
Klinger
R J
RJ
D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D000641:Ammonia / Q000097:blood; D001565:Benzoates / Q000627:therapeutic use; D019817:Benzoic Acid; D001706:Biopsy; D001827:Body Height; D001835:Body Weight; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000378:metabolism*; D003128:Coma / Q000209:etiology / Q000628:therapy; D003937:Diagnosis, Differential; D004044:Dietary Proteins / Q000008:administration & dosage; D006130:Growth Disorders / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D006801:Humans; D008297:Male; D010372:Pediatrics / Q000379:methods; D010648:Phenylacetates / Q000627:therapeutic use; D006435:Renal Dialysis
D001565:Benzoates; D004044:Dietary Proteins; D010648:Phenylacetates; D000641:Ammonia; D019817:Benzoic Acid; D002222:Carbamoyl-Phosphate Synthase (Ammonia); C025136:phenylacetic acid