[Congenital hyperammonemia in neonates treated with hemodiafiltration]

Inborn defects of urea cycle often results in life-threatening hyperammonemia in neonates. The initial therapy of this disease comprises administration of benzoate sodium, arginine, lactulose, neomycin, and restrictive alimentation based on carbohydrates. Renal replacement therapy for ammonia removal should be considered for the most severe cases. We present a case report of two neonates with very rare inborn urea cycle disorders--deficiency of argininosuccinate lyase and carbamyl-phosphate synthetase, treated with spontaneous arterio-venous haemodiafiltration.