Abstract
Background: Neonatal hyperammonemia is often a sign of a severe urea cycle disorder with fatal outcome. With the introduction of Carbaglu® a new treatment option is available for neonatal hyperammonemia due to N-acetyl glutamate synthase (NAGS) deficiency.
Patient: We report of a child with severe neonatal hyperammonemia due to NAGS deficiency successfully treated with Carbaglu®.The boy, the first child to healthy, related parents, was born full term after a normal pregnancy. At 2½ days of age the child's general condition rapidly deteriorated. He became comatose and had convulsions. Laboratory work up showed normal acid-base balance, normal liver- and kidney function tests but P-NH3 was 926 umol/L. The boy was transferred to ICU, required mechanical ventilation and treatment was initiated with i.v. sodium-benzoate, arginine and glucose. Carbaglu® 100 mg/kg x day was given orally and hemofiltration was started. Within 2 days P- NH3 was < 30 umol/L. U-orotic acid was normal. At 6 days of age the boy was taken off the ventilator, protein intake was gradually increased and he started to breastfeed. Genetic analysis showed that he was homozygous and the parents both heterozygous for the novel mutation R414P in exon 7 of the NAGS gene. Carbaglu® therapy has been maintained at 50mg/kg x day. The boy is breastfed without protein restriction and has normal P- NH3 levels. At 5 months of age he has achieved normal developmental milestones.
Conclusion: This case emphasizes the importance to include Carbaglu® early in the treatment of all patients with neonatal hyperammonemia. With Carbaglu® treatment this boy with NAGS deficiency could be breastfed normally.
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Alm, J., Nordenström, A., Hallberg, B. et al. 8 Neonatal Hyperammonemia Successfully Treated with Carbaglu® in a Neonate with N-Acetyl-Glutamate Syntase Deficiency. Pediatr Res 56, 465 (2004). https://doi.org/10.1203/00006450-200409000-00031
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DOI: https://doi.org/10.1203/00006450-200409000-00031