N-carbamylglutamate enhances ammonia detoxification in a patient with decompensated methylmalonic aciduria.
Mol Genet Metab
; 79(4): 303-4, 2003 Aug.
Article
en En
| MEDLINE
| ID: mdl-12948747
ABSTRACT
In patients with methylmalonic aciduria (MMA), the accumulating metabolite propiony-CoA results in an inhibition of the urea circle via the decreased synthesis of N-acetylglutamate, an essential activator of carbamylphosphat synthetase (CPS). This results in one of the major clinical problems which is hyperammonaemia. In a patient with decompensated MMA, the CPS activator carbamylglutamate was tested for its ability to antagonize the propionyl-CoA-induced hyperammonaemia. Oral carbamylgutamate administration resulted in an impressive increase in ammonia detoxification compared to peritoneal dialysis. Safe, fast and easy to administer, carbamylglutamate improves the acute therapy of decompensated MMA by increasing ammonia detoxification and avoiding hyperammonaemia.
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Banco de datos:
MEDLINE
Asunto principal:
Hiperamonemia
/
Errores Innatos del Metabolismo de los Aminoácidos
/
Glutamatos
/
Ácido Metilmalónico
Tipo de estudio:
Etiology_studies
Límite:
Humans
/
Male
Idioma:
En
Año:
2003
Tipo del documento:
Article