- 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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- Inborn Errors of Metabolism in Korea
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Lee HJ
- KMID: 2185707
- J Korean Neurol Assoc.
- 2004 Feb;22(1):1-10.
Diseases of inborn errors of metabolism (IEMs) are very rare but the overall prevalence of IEMs is not low, and in the United States, about 5~10% of admitted patients have... -
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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 Novel SLC25A15 Mmutation Causing Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
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Jang KM, Hyun MC, Hwang SK
- KMID: 2392562
- J Korean Child Neurol Soc.
- 2017 Sep;25(3):204-207.
- doi: 10.26815/jkcns.2017.25.3.204
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) is a neurometabolic disorder with highly variable clinical severity ranging from mild learning disability to severe encephalopathy. Diagnosis of HHH syndrome can easily be delayed or... -
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- The First Neonatal Case of Neonatal Argininosuccinic Aciduria in Korea
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Hwang IO, Lee ES
- KMID: 2188480
- J Korean Soc Neonatol.
- 2011 May;18(1):143-147.
- doi: 10.5385/jksn.2011.18.1.143
Argininosuccinic aciduria (ASAuria) is a rare autosomal recessive urea cycle disorder. Neonatal presentation of ASAuria is the most common form. It is characterized by lethargy, feeding intolerance, decreased consciousness, and... -
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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 Hyperornithinemia-Hyperam monemia-Homocitrullinuria Syndrome: a Patient Who Visited the Emergency Center with Mental Change
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Jeong WJ, Han SK, Yi HY, Lee WS, Ryu S, Lee JW, Kim SW, Yoo IS, You YH
- KMID: 2332232
- J Korean Soc Emerg Med.
- 2008 Apr;19(2):225-228.
Rapid ammonia elevation in blood with accompanying mental change should be considered as a true medical emergency. In such a case, action leading to immediate diagnosis and the earliest possible... -
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- A Case with Transient Hyperammonemia of Newborn
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Lee HK, Lee BH, Jin HY, Kim GH, Choi JH, Yoo HW
- KMID: 2135617
- J Genet Med.
- 2010 Jun;7(1):87-90.
Hyperammonemia in the newborn often leads to severe fatal illness associated with hyperammonemic encephalopathy. Transient hyperammonemia in newborns (THAN) is characterized by self-limiting, transient hyperammonemia during the neonatal period. THAN... -
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- A neonate with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome from a consanguineous Pakistani family
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Kim YM, Lim HH, Gang MH, Lee YW, Kim SZ, Kim GH, Yoo HW, Ko JM, Chang M
- KMID: 2470104
- J Genet Med.
- 2019 Dec;16(2):85-89.
- doi: 10.5734/JGM.2019.16.2.85
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive urea cycle disorder. HHH is caused by a deficiency of the mitochondrial ornithine transporter protein, which is encoded by the solute carrier... -
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- Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing
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Choi R, Park HD, Yang M, Ki CS, Lee SY, Kim JW, Song J, Chang YS, Park WS
- KMID: 2373615
- Ann Lab Med.
- 2017 Jan;37(1):58-62.
- doi: 10.3343/alm.2017.37.1.58
Diagnosis of the urea cycle disorder (USD) carbamoyl-phosphate synthetase 1 (CPS1) deficiency (CPS1D) based on only the measurements of biochemical intermediary metabolites is not sufficient to properly exclude other UCDs... -
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- Newborn screening of inherited metabolic disease in Korea
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Lee DH
- KMID: 2280059
- Korean J Pediatr.
- 2006 Nov;49(11):1125-1139.
- doi: 10.3345/kjp.2006.49.11.1125
In 1991, the Ministry of Health & Social affairs adopted a nationwide service program for neonatal screening of phenylketonuria, galactosemia, maple syrup urine disease, homocystinuria, histidinemia & congenital hypothyroidism for... -
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