Korean J Pediatr.  2011 Oct;54(10):425-428. 10.3345/kjp.2011.54.10.425.

Acute treatment of hyperammonemia by continuous renal replacement therapy in a newborn patient with ornithine transcarbamylase deficiency

Affiliations
  • 1The Institute of Kidney Disease, Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea. shinji@yuhs.ac
  • 2The Institute of Kidney Disease, Department of Pediatrics, Ajou University Hospital, Ajou University School of Medicine, Suwon, Korea.
  • 3The Institute of Kidney Disease, Department of Clinical Genetics, Yonsei University College of Medicine, Seoul, Korea.

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.

Keyword

Ornithine transcarbamylase deficiency; Hyperammonemia; Continuous renal replacement therapy; Infant; Newborn

MeSH Terms

Ammonia
Hemodiafiltration
Humans
Hyperammonemia
Infant
Infant, Newborn
Lethargy
Metabolism, Inborn Errors
Ornithine
Ornithine Carbamoyltransferase
Ornithine Carbamoyltransferase Deficiency Disease
Renal Replacement Therapy
Seizures
Urea
Ammonia
Ornithine
Ornithine Carbamoyltransferase
Urea
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