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Treatment of episodic hyperammonemia in children with inborn errors of urea synthesis
Insights
This study presents a treatment protocol for episodic hyperammonemia in children with urea cycle disorders, using medications and supportive care to effectively manage high ammonia levels and improve patient outcomes.
Area of Science:
- Biochemistry
- Pediatric Medicine
- Metabolic Disorders
Background:
- Children with inborn errors of ureagenesis are susceptible to dangerous episodic hyperammonemia.
- These hyperammonemic episodes can lead to coma and death if not promptly treated.
- Existing management strategies require enhancement for acute episodes.
Purpose of the Study:
- To design and evaluate a therapeutic protocol for managing acute hyperammonemic episodes in children.
- To assess the efficacy of intravenous sodium benzoate, sodium phenylacetate, arginine, and nitrogen-free alimentation.
- To determine the role of dialysis in refractory cases.
Main Methods:
- Developed a protocol involving prompt hyperammonemia recognition and multi-drug therapy.
- Administered intravenous sodium benzoate, sodium phenylacetate, and arginine.
- Provided nitrogen-free intravenous alimentation and utilized dialysis for unresponsive cases.
- Treated twelve hyperammonemic episodes in seven children with specific urea cycle enzyme deficiencies.
Main Results:
- The protocol successfully treated hyperammonemic episodes in six out of seven children.
- One patient died, while the remaining six recovered from their episodes.
- Urinary nitrogen analysis showed hippurate and phenylacetylglutamine accounted for 60% of effective waste nitrogen in two patients.
- The therapeutic protocol demonstrated significant effectiveness in managing acute hyperammonemia.
Conclusions:
- The designed therapeutic protocol is effective in managing episodic hyperammonemia in children with urea cycle disorders.
- Prompt recognition and combined therapy, including medications and supportive care, are crucial for successful outcomes.
- This approach plays a vital role in the long-term management of urea cycle disorders, reducing mortality and morbidity.
Abstract:
Although normal plasma ammonium levels can be maintained in children with inborn errors of ureagenesis, these children are vulnerable to episodic hyperammonemia often resulting in coma and death. To treat such episodes, we designed a therapeutic protocol that included prompt recognition of hyperammonemia, therapy with intravenous sodium benzoate, sodium phenylacetate, and arginine, and nitrogen-free intravenous alimentation. Dialysis was performed if the hyperammonemia was unresponsive to drug therapy. Twelve episodes of hyperammonemia in seven children deficient in carbamyl phosphate synthetase, ornithine transcarbamylase, or argininosuccinic acid synthetase were treated; one patient died and the others recovered. In two patients measurement of the distribution of urinary nitrogen revealed that hippurate nitrogen and phenylacetylglutamine nitrogen together accounted for 60 per cent of "effective" urinary waste nitrogen. Successful therapy of episodic hyperammonemia plays an important part in the long-term management of disorders of the urea cycle.