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Case Report
A Case of Citrullinemia Diagnosed at the Neonatal Period
Seung Kyu Song, Kyung Chang Oh, Mi Ae Hong, Hee Taeg Kim, Hye Jung Shin, Soon Young Kim, Jin Keun Chang, Heui Seung Jo, Beyong Il Kim, Sei Won Yang, Jung-Hwan Choi
Clin Exp Pediatr. 2002;45(4):524-528.   Published online April 15, 2002
Citrullinemia is a rare inborn error of metabolism of the urea cycle, and was first reported by McMurray, et al. in 1962. It is inherited as an autosomal recessive trait. The normal synthesis of argininosuccinic acid is blocked in this disease due to a deficiency of argininosuccinic acid synthetase(AS), which has been demonstrated in liver cells and fibroblasts. The clinical...
Two Cases of Citrullinemia Presented with Strokes
Hyun-Mi Kim, Jae-Bok Kim, Jung-Ho Kim, Sang-Jin Ba, Chong-Hyun Yoon, Han-Wook Yoo
Clin Exp Pediatr. 1999;42(3):437-441.   Published online March 15, 1999
Urea cycle disorders are characterized by encephalopathy, respiratory alkalosis, and hyperammonemia. A urea cycle disorder should be considered a diagnostic possibility in any patient regardless of age with occult encephalopathy. The most common central nervous system pathology of urea cycle disorder is cerebral edema. The cerebral edema is caused by astrocyte swelling secondary to hyperammonemia and intracellular glutamine accumulation. Strokes...
A Case of Citrullinemia
Dong Soo Park, Dong Un Kim, Sang Ook Park, Ik Jun Lee
Clin Exp Pediatr. 1997;40(4):584-587.   Published online April 15, 1997
Citrullinemia is one of the five urea cycle defects and is caused by argininosuccinic acid synthetase deficiency ; conversion of citrulline to argininosuccinic acid is blocked. Severe hyperammonemia typically develops in the neonate within a few days and symptoms such as vomiting, lethargy, convulsion, coma follows rapidly. The diagnosis is supported by high citrulline level in serum, urine, CSF and...
A Case of Citrullinemia.
Bok Lyun Kim, Sung Myun Won, Hong Kee Pang, Dong Wan Lee, Sang Joo Lee, Kikumaru Aoki
Clin Exp Pediatr. 1987;30(7):797-804.   Published online July 31, 1987
Citrullinemia is an urea cycle enzymopathy, which is characterized by hyperammonemia, high citrulline levle in serum, CSF, urine and decreased activity of argininosuccinic acid synthetase in liver biopsy. The clinical symptoms are vomiting, lethergy, seizures, coma and ultimately in death if the hyperammonemia is noit controlled. We experienced a 46-day-old male infant with vomiting, seizure and coma, who is diagnosed as citrullinemia by markedly...