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

• Published in: Clinical and experimental pediatrics Vol. 54; no. 10; pp. 425 - 428
• Main Authors: Kim, Hyo Jeong, Park, Se Jin, Park, Kook In, Lee, Jin Sung, Eun, Ho Sun, Kim, Ji Hong, Shin, Jae Il
• Format: Journal Article
• Language: English
• Published: Korea (South) Clinical and Experimental Pediatics / Korean Pediatric Society 01.10.2011; The Korean Pediatric Society; Korean Pediatric Society; 대한소아청소년과학회
• Subjects: Amino acids; Case Report; Catheters; Continuous renal replacement therapy; Dialysate; Diet; Enzymes; Hyperammonemia; Infant; Mutation; Nervous system; Newborn; Nitrogen; Ornithine transcarbamylase deficiency; Patients; Peritoneal dialysis; Proteins; Renal replacement therapy; Sodium; Urine; 소아과학; Infant; Newborn; Continuous renal replacement therapy; Hyperammonemia; Ornithine transcarbamylase deficiency
• ISSN: 1738-1061; 2092-7258; 2713-4148
• DOI: 10.3345/kjp.2011.54.10.425

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 µg/dL (range, 0 to 45 µg/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.