- A Case of Ornithine Transcarbamylase (OTC) Deficiency
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Kwon S, Lee Y, Choe BH, Lee S
- KMID: 1946283
- J Korean Pediatr Soc.
- 2000 Jan;43(1):123-127.
OTC deficiency is an X-linked disorder in which the synthesis of urea is impaired. OTC catalyzes the synthesis of citrulline from carbamyl phosphate and ornithine. Complete or partial deficiencies of... -
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- CT and MR Imaging in 3 Patients with Hyperammonemia Due to Ornithine Transcarbamylase Deficiency
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Kim KJ, Kim DH, Lee HK, Choi DL, Hong HS, Jung MS, Kwon KK
- KMID: 2346162
- J Korean Radiol Soc.
- 1995 Sep;33(3):439-442.
CT and MR appearance of the brain in three children with ornithine transcarbamylase (OTC) deficiency are described. They showed clinical signs of vomiting and convulsion and were diagnosed by measurement of... -
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- A Case of Molecular Diagnosis of Ornithine Transcarbamylase Deficiency
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Lee ES
- KMID: 2320145
- Yeungnam Univ J Med.
- 2007 Dec;24(2):322-328.
Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of urea cycle metabolism; it is inherited in an X-linked manner. The OTC catalyzes the third step of the urea... -
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- Ultra-Structural Changes of the Chorioretina Following Intra-Vitreal Injection of Ornithine in Rabbit
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Kim BJ, Yoo YS, Yoo JH
- KMID: 1968201
- J Korean Ophthalmol Soc.
- 1991 Oct;32(10):878-883.
The ultrastructural changes of the chorioretina following the intravitreal injection of ornithine in rabbit eyes at 1,2,4,8 week time intervals were investigated employing electron microscopy in this animal experiment. 1.... -
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- A variant of ornithine aminotransferase from mouse small intestine
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Lim SN, Rho HW, Park JW, Jhee EC, Kim JS, Kim HR
- KMID: 1109295
- Exp Mol Med.
- 1998 Sep;30(3):131-135.
The ornithine aminotransferase (OAT) activity of mouse was found to be highest in the small intestine. The mitochondrial OAT from mouse small intestine was purified to homogeneity by the procedures including heart... -
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- Acute treatment of hyperammonemia by continuous renal replacement therapy in a newborn patient with ornithine transcarbamylase deficiency
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Kim HJ, Park SJ, Park KI, Lee JS, Eun HS, Kim JH, Shin JI
- KMID: 1447909
- Korean J Pediatr.
- 2011 Oct;54(10):425-428.
- doi: 10.3345/kjp.2011.54.10.425
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... -
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- A Case of Ornithine Transcarbamylase Deficiency Successfully Treated with Protein Restriction and Living Related Liver Transplantation
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Kim BS, Kim KM, Yoo HW, Lee SG
- KMID: 2041992
- J Korean Pediatr Soc.
- 1999 Jun;42(6):868-873.
Ornithine transcarbamylase deficiency(OTCD), the most common inborn error of the urea cycle, is inherited in X-linked manner. In affected hemizygote males, OTCD manifests hyperammonemic coma that often leads to death... -
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- Gyrate Atrophy of the Choroid and Retina Diagnosed by Ornithine-delta-aminotransferase Gene Analysis: A Case Report
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Kim SJ, Lim DH, Kim JH, Kang SW
- KMID: 1707296
- Korean J Ophthalmol.
- 2013 Oct;27(5):388-391.
- doi: 10.3341/kjo.2013.27.5.388
A pair of 19-year-old female identical twins was referred to our hospital with progressive visual loss. They exhibited bilateral chorioretinal atrophy involving the midperiphery on fundoscopy and fluorescein angiography. Bilateral... -
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- A Case of Cystine Stone
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Yoon DK, Shin YS, Koh SK
- KMID: 2289654
- Korean J Urol.
- 1984 Feb;25(1):112-116.
Urinary tract calculi composed primarily of cystine are rare in adults and children. These are usually pure and found exclusively in patients with cystinuria. Cystinuria is an inherited defect in... -
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- Hyperammonemia in a Patient with Late-Onset Ornithine Carbamoyltransferase Deficiency
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Choi DE, Lee KW, Shin YT, Na KR
- KMID: 1372801
- J Korean Med Sci.
- 2012 May;27(5):556-559.
- doi: 10.3346/jkms.2012.27.5.556
Ornithine carbamoyltransferase (OTC) deficiency is a urea cycle disorder that causes the accumulation of ammonia, which can lead to encephalopathy. Adults presenting with hyperammonemia who are subsequently diagnosed with urea... -
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- Reliability of the Single Cell PCR analysis for Preimplantation Genetic Diagnosis of Single Gene Disorders
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Choi HW, Lee HS, Lim CK, Koong MK, Kang IS, Jun JH
- KMID: 1772289
- Korean J Fertil Steril.
- 2005 Dec;32(4):293-300.
No abstract available. -
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- Lethal Hyperammonemia due to Ornithine Transcarbamylase Deficiency in a Patient with Severe Septic Shock
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Hwang JA, Song JH, Lee YS, Chung KS, Kim SY, Kim EY, Jung JY, Kang YA, Kim YS, Chang J, Park MS
- KMID: 2350922
- Korean J Crit Care Med.
- 2016 May;31(2):140-145.
- doi: 10.4266/kjccm.2016.31.2.140
Severe hyperammonemia can occur as a result of inherited or acquired liver enzyme defects in the urea cycle, among which ornithine transcarbamylase deficiency (OTCD) is the most common form. We... -
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- Characterization of Molecular Defects in Korean Families with Inherited Ornithine Transcarbamylase Deficiency and Their Genotype-Phenotype Correlations
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Yoo HW
- KMID: 1748172
- J Korean Pediatr Soc.
- 1999 Jul;42(7):900-910.
PURPOSE: This study was undertaken to characterize molecular defects in Korean families with ornithine transcarbamylase(OTC) deficiency, correlate it with phenotype using in vitro expression study, and utilize it for making... -
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- A Case of Cystine Stone in a Child
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Cho CH, Hahm KS, Park JK, Kim KH
- KMID: 2139657
- Korean J Urol.
- 1986 Dec;27(6):933-938.
Cystinuria is an autosomal recessive inherited defect in renal tubular reabsorption of four amino acids, cystine, ornithine, lysine and arginine. Homozygotes were identified by the formation of urinary tract calculi... -
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- Augmentation of Butyrate-induced Differentiation of Human Hepatocyte for the Development of an Efficient Bioartificial Liver
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Kim YJ, Lee HS
- KMID: 2084972
- Korean J Gastroenterol.
- 2001 Jan;37(1):35-42.
BACKGROUND/AIMS: We examined whether we could produce hepatocytes with further differentiated functions by promoting G1-S transition of the cell cycle in a butyrate-treated human hepatocyte cell line that we have... -
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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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- Two Cases of HHH Syndrome in Siblings
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Hwang MH, Kim BS, Lee DH
- KMID: 2207363
- J Korean Pediatr Soc.
- 2001 Oct;44(10):1206-1210.
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... -
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- Exogenous spermidine ameliorates tubular necrosis during cisplatin nephrotoxicity
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Yoon SP, Kim J
- KMID: 2447012
- Anat Cell Biol.
- 2018 Sep;51(3):189-199.
- doi: 10.5115/acb.2018.51.3.189
The hallmark of cisplatin-induced acute kidney injury is the necrotic cell death in the kidney proximal tubules. However, an effective approach to limit cisplatin nephrotoxicity remains unknown. Spermidine is a... -
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- Spermidine is protective against kidney ischemia and reperfusion injury through inhibiting DNA nitration and PARP1 activation
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Kim J
- KMID: 2390481
- Anat Cell Biol.
- 2017 Sep;50(3):200-206.
- doi: 10.5115/acb.2017.50.3.200
Kidney ischemia and reperfusion injury (IRI) is associated with a high mortality rate, which is attributed to tubular oxidative and nitrative stresses; however, an effective approach to limit IRI remains... -
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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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