- A Case of Citrullinemia
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Kim BL, Won SM, Pang HK, Lee DW, Lee SJ, Aoki K
- KMID: 1677065
- J Korean Pediatr Soc.
- 1987 Jul;30(7):797-804.
No abstract available. -
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- A Case of Citrullinemia Controlled by Diet and Arginine
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Jeong EY, Jeon SS, Seo SS
- KMID: 2099009
- J Korean Soc Neonatol.
- 1999 Nov;6(2):280-280.
Citrullinemia is an inborn error of urea cycle metabolism caused by deficiency of arginosuccinate synthetase. It is characterized by hyperammonemia and high citrulline level in serum, CSF and urine. The... -
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- 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 Presenting with Status Epilepticus
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Jang JY, You SJ, Yoo HW, Ko TS
- KMID: 2329325
- J Korean Child Neurol Soc.
- 2005 Nov;13(2):252-256.
Status epilepticus and seizure in childhood have various etiologies. Metabolic disorders may be an important cause of seizure and status epilepticus in childhood. Citrullinemia is a form of urea cycle... -
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- A Novel Argininosuccinate Synthetase Gene Mutation in a Korean Family with Type I Citrullinemia
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Ahn BW, Kim HJ, Park HD, Kim WD
- KMID: 2321496
- J Korean Soc Neonatol.
- 2010 Nov;17(2):250-253.
Citrullinemia type I is an urea cycle defect caused by mutations in the argininosuccinate synthetase (ASS1) gene. We report a novel argininosuccinate synthetase gene mutation in a Korean family with... -
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- Anesthetic care for living donor auxiliary partial orthotopic liver transplantation in the treatment of adult-onset type II citrullinemia: A case report
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Paek CM, Chung JY, Yi JW, Lee BJ, Kim DO, Kang JM
- KMID: 2299213
- Korean J Anesthesiol.
- 2008 Aug;55(2):244-249.
- doi: 10.4097/kjae.2008.55.2.244
A deficiency of the urea cycle enzyme, argininosuccinate synthetase which is produced in liver, makes citrullinemia, which is an autosomal recessive disorder. As the liver is the only organ which... -
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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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- Auxiliary partial orthotopic liver transplantation for adult onset type II citrullinemia
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Kim BS, Joo SH, Lee SH, Lee JI, Kim HC, Nam DH, Park HC
- KMID: 2096651
- J Korean Surg Soc.
- 2011 Jun;80(Suppl 1):S51-S54.
- doi: 10.4174/jkss.2011.80.Suppl1.S51
Adult-onset type II citrullinemia (CTLN2) is a disorder caused by an inborn error of metabolism affecting the liver. CTLN2 is an autosomal recessive disorder characterized by recurrent encephalopathy with hyperammonemia... -
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- Anesthesia for Living Related Liver Transplantation in Classic Citrullinemia: A case report
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Huh IY, Hwang KS, Park CH, Park SW, Shin JW, Chio KT
- KMID: 2237546
- Korean J Anesthesiol.
- 2004 Aug;47(2):287-291.
- doi: 10.4097/kjae.2004.47.2.287
Citrullinemia is an autosomal recessive disorder resulting in a deficiency of the urea cycle enzyme, argininosuccinate synthetase, which is mainly found in the liver. Despite the improvement in a dietary... -
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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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- Successful treatment of a child with citrullinemia
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Lee KH, Park MS, Hahn SH
- KMID: 1963057
- J Genet Med.
- 1997 Sep;1(1):5-10.
The amino acids formed by degradation of proteins ingested produce ammonia. The ammonia which is broken down and excreted as urea through a process known as the Klebs-Hensleit cycle or... -
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- A Case of Adult Onset Type II Citrullinemia with SLC25A13 Gene Mutation
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Kim JH, Park KW, Park CJ, Sun GH, Kim HH, Kim SY, Bae HY, Cho EH, Yang SH
- KMID: 2391909
- J Korean Endocr Soc.
- 2006 Dec;21(6):542-547.
Adult onset type II citrullinemia is an autosomal recessive disorder of the amino acid metabolism caused by a deficiency of liver specific argininosuccinate synthetase activity. This disease can occur at... -
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- The first successful live birth following preimplantation genetic diagnosis using PCR for type 1 citrullinemia
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Cho JH, Kim CH, Lee KH, Jeon IK, Kim JM, Kang BM
- KMID: 1704434
- Obstet Gynecol Sci.
- 2014 May;57(3):244-247.
- doi: 10.5468/ogs.2014.57.3.244
Type 1 citrullinemia (CTLN1) is an autosomal recessive inherited metabolic disorder caused by anargininosuccinicnate synthetase deficiency. The patient was a 38-year-old Korean woman who is a carrier for CTLN1 and... -
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- Two Cases of Citrullinemia Presented with Strokes
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Kim HM, Kim JB, Kim JH, Bae SJ, Yoon CH, Yoo HW
- KMID: 1946347
- J Korean Pediatr Soc.
- 1999 Mar;42(3):437-441.
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.... -
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- Novel Compound Heterozygote Mutations of the SLC25A13 Gene in an Infant with Neonatal-onset Type II Citrullinemia Detected by Newborn Mass Screening
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Lim HS, Kim H, Kim SS, Kim GH, Yoo HW, Shin YL
- KMID: 2099215
- J Korean Soc Neonatol.
- 2011 Nov;18(2):370-373.
- doi: 10.5385/jksn.2011.18.2.370
Citrin deficiency caused by the SLC25A13 gene mutations is associated with both neonatal-onset type II citrullinemia (CTLN2), also known as neonatal intrahepatic cholestasis caused by citrin deficiency and adult-onset CTLN2.... -
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- Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency in Korean Infants
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Ko JS, Song JH, Park SS, Seo JK
- KMID: 1785752
- J Korean Med Sci.
- 2007 Dec;22(6):952-956.
- doi: 10.3346/jkms.2007.22.6.952
Citrin is a liver-type mitochondrial aspartate-glutamate carrier encoded by the SLC25A13 gene, and its deficiency causes adult-onset type II citrullinemia and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). Here,... -
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