- 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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- 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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- 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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- 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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- 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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- 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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- 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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- Successful Preimplantation Genetic Diagnosis for Ornithine Transcarbamylase Deficiency, Junctional Epidermolysis Bullosa and Lactic Acidosis Using Duplex Nested PCR: Delivery of Healthy Baby by Specific Preimplantation Genetic Diagnosis for Ornithine Tran
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Lee HS, Choi HW, Lim CK, Min DM, Byun HK, Kim JY, Koong MK, Yoo HW, Kim SC, Jun JH, Kang IS
- KMID: 2272309
- Korean J Obstet Gynecol.
- 2004 Apr;47(4):708-718.
OBJECTIVE: Preimplantation genetic diagnosis (PGD) is reserved for couples with a risk of transmitting a serious and incurable disease, and hence avoids the undesirable therapeutic abortion. Herein, we report the... -
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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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