- A Case of Citrullinemia
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Park DS, Kim DU, Moon SO, Lee IJ
- KMID: 2142438
- J Korean Pediatr Soc.
- 1997 Apr;40(4):584-587.
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... -
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- A Case of Citrullinemia Diagnosed at the Neonatal Period
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Song SK, Oh KC, Hong MA, Kim HT, Shin HJ, Kim SY, Chang JK, Jo HS, Kim BI, Yang SW, Choi JH
- KMID: 2335624
- J Korean Pediatr Soc.
- 2002 Apr;45(4):524-528.
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.... -
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- A Case of Adult-type Citrullinemia with Hyperammonemia
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Park HJ, Lim HJ, Jung IS, Kim YH, Kim IH, Chung IK, Kim HS, Park SH, Lee MH, Kim SJ, Lee DH
- KMID: 2085022
- Korean J Gastroenterol.
- 2002 May;39(5):379-385.
Adult type citrullinemia is a urea cycle enzymopathy, which is characterized by hyperammonemia, high citrulline level in serum and decreased activity of argininosuccinic acid synthetase in liver biopsy. Clinical symptoms... -
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