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Case Report
Acute treatment of hyperammonemia by continuous renal replacement therapy in a newborn patient with ornithine transcarbamylase deficiency
Hyo Jeong Kim, Se Jin Park, Kook In Park, Jin Sung Lee, Ho Sun Eun, Ji Hong Kim, Jae Il Shin
Clin Exp Pediatr. 2011;54(10):425-428.   Published online October 31, 2011

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...

A Case of Ornithine Transcarbamylase Deficiency Successfully Treated with Protein Restriction and Living Related Liver Transplantation
Bong Seong Kim, Kyung Mo Kim, Han-Wook Yoo, Sung Gyu Lee
Clin Exp Pediatr. 1999;42(6):868-873.   Published online June 15, 1999
Ornithine transcarbamylase deficiency(OTCD), the most common inborn error of the urea cycle, is inherited in X-linked manner. In affected hemizygote males, OTCD manifests hyperammonemic coma that often leads to death during the newborn period. Our patient was at high risk for inborn error of urea cycle metabolism, since his two elder brothers died a few days after birth due to...