Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)

A urea cycle enzyme that catalyzes the formation of orthophosphate and L-citrulline (CITRULLINE) from CARBAMOYL PHOSPHATE and L-ornithine (ORNITHINE). Deficiency of this enzyme may be transmitted as an X-linked trait. EC 2.1.3.3.

Also Known As:

Ornithine Transcarbamylase; Ornithine Carbamylphosphate Transferase; Carbamoyltransferase, Ornithine; Carbamylphosphate Transferase, Ornithine; Transcarbamylase, Ornithine; Transferase, Ornithine Carbamylphosphate; Carbamoyl-phosphate:L-ornithine carbamoyltransferase

Networked: 451 relevant articles (9 outcomes, 26 trials/studies)

Relationship Network

Bio-Agent Context: Research Results

Enzymes and Coenzymes: 1
- Enzymes: 152586
  - Transferases: 6589
    - One-Carbon Group Transferases
      - Carboxyl and Carbamoyl Transferases: 52
        Ornithine Carbamoyltransferase: 451
        human OTC protein
        pre-ornithine transcarbamoylase
        preornithine carbamoyltransferase
        putrescine synthase
        S cerevisiae arg3 protein

Experts

1.	Wilson, James M: 8 articles (03/2022 - 09/2003)
2.	Tuchman, Mendel: 8 articles (05/2015 - 02/2002)
3.	Batshaw, Mark L: 7 articles (01/2020 - 09/2003)
4.	Morizono, Hiroki: 7 articles (01/2020 - 02/2002)
5.	Häberle, Johannes: 7 articles (11/2019 - 06/2003)
6.	Bell, Peter: 6 articles (03/2022 - 02/2012)
7.	Wang, Lili: 5 articles (03/2022 - 02/2012)
8.	Murayama, Hiroshi: 5 articles (01/2017 - 05/2007)
9.	He, Zhenning: 4 articles (03/2022 - 03/2016)
10.	Yu, Hongwei: 4 articles (01/2020 - 02/2012)

Related Diseases

1.	Ornithine Carbamoyltransferase Deficiency Disease 02/16/1996 - "A murine model of ornithine transcarbamylase (OTC) deficiency was used in this study to evaluate the efficacy of recombinant adenoviruses for correcting the metabolic defect in liver. " 06/10/2001 - "Mouse models of ornithine transcarbamylase (OTC) deficiency are being used to test the efficacy of viral vectors as possible vehicles for gene therapy. " 09/01/2013 - "A 66-year-old woman heterozygous for a mutation in the ornithine transcarbamylase gene (Otc) participated in a phase I gene therapy trial for OTC deficiency. " 05/01/2011 - "This study aimed at understanding clinical features, biochemistry and gene mutation in one Chinese pedigree which had a neonatal-onset ornithine transcarbamylase deficiency (OTCD) boy, and exploring the significance of ornithine transcarbamylase analysis in prenatal diagnosis. " 06/01/2009 - "For ornithine transcarbamylase (OTC) deficiency, in vitro studies have suggested the presence of dominant-negative effects, however, supporting in vivo studies have not been conducted. "
2.	Hyperammonemia 09/01/2022 - "Hyperammonemia in a girl who inherited a likely pathogenic variant of the ornithine transcarbamylase gene from her asymptomatic father-A peculiar pattern of X-linked recessive inheritance." 04/01/2018 - "Given the potential morbidity of prolonged hyperammonemia, neurohospitalists need to be aware of partial ornithine transcarbamylase as an entity." 10/01/2015 - "A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia." 10/01/2011 - "Women who are carriers of the ornithine transcarbamylase (OTC) mutation are at risk for developing hyperammonemia during the postpartum period and at times of metabolic stress. " 05/01/2001 - "Wild-type human ornithine transcarbamylase (OTCase) and two mutants (R277Q and R277W) that cause 'late-onset' hyperammonemia were crystallized and a preliminary structure determination was carried out. "
3.	Argininosuccinic Aciduria 08/01/2008 - "Ornithine transcarbamylase (OTC) deficiency was the most frequent disorder (55%), followed by argininosuccinic aciduria (16%) and citrullinemia (14%). " 01/16/1995 - "Other diseases are, in order of frequency, argininosuccinic aciduria (75 cases), ornithine transcarbamylase defect (52 cases), carbamoylphosphate synthetase defect (8 cases), triple H (3 cases), and arginase deficiency (1 case). " 01/01/2021 - "Next, we investigated efficacy of cell-penetrating autophagy-inducing Tat-Beclin-1 (TB-1) peptide for therapy of the two most common UCD, namely ornithine transcarbamylase (OTC) and argininosuccinate lyase (ASL) deficiencies. " 03/01/2013 - "There were 18 liver samples from 13 patients with confirmed UCD: four ex-planted livers from patients with Ornithine Transcarbamylase (OTC) (n=3) and Carbamoyl Phosphate Synthetase 1 (CPS 1) (n=1) deficiencies, eight post-mortem samples from patients with CPS 1 (n=2), OTC (n=4), Argininosuccinate Synthetase (ASS) (n=1) and Argininosuccinate Lyase (ASL) (n=1) deficiencies, and six liver biopsies, three of which came from one patient with ASL deficiency. " 10/01/2008 - "We found a total of 55 cases of UCDs in Finland by 2007: 30 cases of ornithine transcarbamylase (OTC) deficiency, 20 of argininosuccinate lyase (ASL) deficiency, 3 of carbamyl phosphate synthetase (CPS-I) deficiency, 1 of type 1 citrullinaemia and 1 of argininaemia. "
4.	Giardiasis 11/01/2006 - "Immune IgA was greatly increased in the serum of pIgR-deficient mice, conferred passive protection against Giardia, and recognized several conserved giardial Ags, including ornithine carbamoyltransferase, arginine deiminase, alpha-enolase, and alpha- and beta-giardins, that are also detected in human giardiasis. "
5.	Reye Syndrome (Reye's Syndrome) 10/01/1991 - "In two patients with fatal Reye's Syndrome, total ornithine carbamoyltransferase (OCTase) activity in the liver was 50 and 75% of that found in three control livers. " 10/01/1991 - "Displacement of hepatic ornithine carbamoyltransferase from mitochondria to cytosol in Reye's syndrome." 01/01/1991 - "Ornithine carbamoyltransferase activity was decreased in the liver of Reye's syndrome patients. " 09/27/1975 - "Letter: Reye's syndrome and the kinetics of ornithine carbamoyltransferase." 10/10/1974 - "Letter: Role of ornithine transcarbamylase in Reye's syndrome."

Related Drugs and Biologics

1.	Complementary DNA (cDNA)
2.	Urea (Carbamide)
3.	Argininosuccinate Lyase
4.	DNA (Deoxyribonucleic Acid)
5.	Thioacetamide (Thioacetamid)
6.	arginine deiminase
7.	Peptides (Polypeptides)
8.	Phosphopyruvate Hydratase (Enolase)
9.	Immunoglobulin A (IgA)
10.	Enzymes

Related Therapies and Procedures

1.	Therapeutics
2.	High-Protein Diet
3.	Transplantation
4.	Liver Transplantation
5.	Resuscitation