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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 severe transient hyperammonemia in a newborn
Min Woo Hwang, Seung Taek Yu, Yeon Kyun Oh
Clin Exp Pediatr. 2010;53(4):598-602.   Published online April 15, 2010
Transient hyperammonemia in a newborn is an overwhelming disease manifested by hyperammonemic coma. The majority of affected newborns are premature and have mild respiratory syndrome. The diagnosis may be difficult to determine. This metabolic disorder is primarily characterized by severe hyperammonemia in the postnatal period, coma, absence of abnormal organic aciduria and normal activity of the enzymes of the urea...
Two Cases of HHH Syndrome in Siblings
Min Ho Hwang, Bo Sun Kim, Dong Hwan Lee
Clin Exp Pediatr. 2001;44(10):1206-1210.   Published online October 15, 2001
Hyperornithinemia-hyperammonemia-homocitrullinuria(HHH) syndrome is a rare autosomal recessive disorder caused by a defect in the urea cycle. Protein intolerance, mental retardation, seizure, ataxia, and stupor are characteristic symptoms. Patients showing these symptoms may also present symptoms of acute hepatic disease at the same time. When fed with a high protein diet, they may refuse to eat, vomit, become lethargic, or go...
Original Article
A Case of Methylmalonic Acidemia.
Jong Hoon Park, Si Houn Hahn, Kee Hwan Yoo, Kwang Chul Lee, Chang Sung Sohn, Pyung Hwa Choe
Clin Exp Pediatr. 1989;32(7):984-989.   Published online July 31, 1989
Methylmalonic acidemia is an inborn error of metabolism, which is characterized by excretion of large amount of methylmalonate, and is transmitted as an autosomal recessive traits. The clinical symptoms begin in early life and are recurrent vomiting, lethargy, dehydration, failure to thrive. Laboratory findings show ketosis, metabolic acidosis, methymalonic aciduria with normal serum cobalamin level, hyperammonemia, pancytopenia. Two treatment regi- mens exist and should...