Urea cycle disorders: clinical presentation outside the newborn period.
Crit Care Clin
; 21(4 Suppl): S9-17, 2005 Oct.
Article
en En
| MEDLINE
| ID: mdl-16227115
Although most commonly associated with infancy, the majority of individuals with urea cycle disorders (UCDs) present outside the neonatal period, frequently in childhood. Signs and symptoms are often vague, but recurrent; fulminant presentations associated with acute illness are also common. A disorder of urea cycle metabolism should be considered in children who have recurrent symptoms, especially neurologic abnormalities associated with periods of decompensation. Routine laboratory tests, including measurement of plasma ammonia concentrations, can indicate a potential UCD; however, specific metabolic testing and ultimately enzymatic or molecular confirmation are necessary to establish a diagnosis. Treatment with dietary protein restriction and medications may be challenging in children.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Urea
/
Enfermedad por Deficiencia de Ornitina Carbamoiltransferasa
/
Hiperamonemia
/
Aciduria Argininosuccínica
/
Errores Innatos del Metabolismo de los Aminoácidos
Tipo de estudio:
Diagnostic_studies
Límite:
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Crit Care Clin
Asunto de la revista:
TERAPIA INTENSIVA
Año:
2005
Tipo del documento:
Article
País de afiliación:
Estados Unidos
Pais de publicación:
Estados Unidos