Late clinical presentation of partial carbamyl phosphate synthetase I deficiency.
Am J Dis Child
; 147(3): 267-9, 1993 Mar.
Article
em En
| MEDLINE
| ID: mdl-8438805
ABSTRACT
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. RESEARCHDESIGN:
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/MAINRESULTS:
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Carbamoil-Fosfato Sintase (Amônia)
/
Erros Inatos do Metabolismo dos Aminoácidos
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
Limite:
Adolescent
/
Humans
/
Male
Idioma:
En
Revista:
Am J Dis Child
Ano de publicação:
1993
Tipo de documento:
Article