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Colegio de Medicos y Cirujanos República de Costa Rica

2012, Number 603

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Rev Med Cos Cen 2012; 69 (603)

Aspectos integrales de los defectos del ciclo de la urea

Torres FJ

Language: Spanish
References: 45
Page: 379-386
PDF size: 413.39 Kb.


ABSTRACT

The defects of the urea cycle are a diseases group of genetic etiology characterized by hyperammonemia, respiratory alkalosis and progressive encephalopathy. The main clinical manifestation is neurological damage that is caused by the toxic effect of high ammonia levels due to the blockade of any step or the urea cycle, which takes place inside the hepatocyte. The basis of therapy is to keep the ammonia within the normal range. The delay in diagnosis and treatment leading to early neonatal death.


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