Acute treatment of hyperammonemia by continuous renal replacement therapy in a newborn patient with ornithine transcarbamylase deficiency.
10.3345/kjp.2011.54.10.425
- Author:
Hyo Jeong KIM
1
;
Se Jin PARK
;
Kook In PARK
;
Jin Sung LEE
;
Ho Sun EUN
;
Ji Hong KIM
;
Jae Il SHIN
Author Information
1. The Institute of Kidney Disease, Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea. shinji@yuhs.ac
- Publication Type:Case Report
- Keywords:
Ornithine transcarbamylase deficiency;
Hyperammonemia;
Continuous renal replacement therapy;
Infant;
Newborn
- MeSH:
Ammonia;
Hemodiafiltration;
Humans;
Hyperammonemia;
Infant;
Infant, Newborn;
Lethargy;
Metabolism, Inborn Errors;
Ornithine;
Ornithine Carbamoyltransferase;
Ornithine Carbamoyltransferase Deficiency Disease;
Renal Replacement Therapy;
Seizures;
Urea
- From:Korean Journal of Pediatrics
2011;54(10):425-428
- CountryRepublic of Korea
- Language:English
-
Abstract:
Ornithine transcarbamylase (OTC) deficiency is well known as the most common inherited disorder of the urea cycle, and 1 of the most common causes of hyperammonemia in newborns. We experienced a case of a 3-day-old boy with OTC deficiency who appeared healthy in the first 2 days of life but developed lethargy and seizure soon afterwards. His serum ammonia level was measured as >1700 microg/dL (range, 0 to 45 microg/dL). Continuous renal replacement therapy (CRRT) in the mode of continuous venovenous hemodiafiltration was immediately applied to correct the raised ammonia level. No seizure occurred after the elevated ammonia level was reduced. Therefore, CRRT should be included as 1 of the treatment modalities for newborns with inborn errors of metabolism, especially hyperammonemia. Here, we report 1 case of successful treatment of hyperammonemia by CRRT in a neonate with OTC deficiency.
