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Ornithine transcarbamylase deficiency: a cause of lethal neonatal hyperammonemia in males

STEM and males

[No authors listed]
GSID: _0tqigaN8gMJ
AGM Campbell, LE Rosenberg… - … England Journal of …, 1973 - Mass Medical Soc

Three successive male infants in one family became comatose and died at less than 10 days of age. No cause for death was identified in the first boy, but striking hyperammonemia, …

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Campbell, A. G., Rosenberg, L. E., Snodgrass, P. J., & Nuzum, C. T. (1973). Ornithine transcarbamylase deficiency: a cause of lethal neonatal hyperammonemia in males. New England Journal of Medicine, 288(1), 1-6.
Campbell, Alexander GM, et al. "Ornithine transcarbamylase deficiency: a cause of lethal neonatal hyperammonemia in males." New England Journal of Medicine 288.1 (1973): 1-6.
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Identification of a Histidine Metal Ligand in the argE-Encoded N-Acetyl-L-Ornithine Deacetylase from Escherichia coli.

SpringerPlus

McGregor WC, Gillner DM, Swierczek SI, Liu D, Holz RC.
PMID: 25674394
Springerplus. 2013 Sep 23;2:482. doi: 10.1186/2193-1801-2-482. eCollection 2013.

The H355A, H355K, H80A, and H80K mutant enzymes of the argE-encoded N-acetyl-L-ornithine deacetylase (ArgE) from Escherichia coli were prepared, however, only the H355A enzyme was found to be soluble. Kinetic analysis of the Co(II)-loaded H355A exhibited activity levels that...

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McGregor WC, Gillner DM, Swierczek SI, et al. Identification of a Histidine Metal Ligand in the argE-Encoded N-Acetyl-L-Ornithine Deacetylase from Escherichia coli. Springerplus. 2013;2:482doi: 10.1186/2193-1801-2-482.
McGregor, W. C., Gillner, D. M., Swierczek, S. I., Liu, D., & Holz, R. C. (2013). Identification of a Histidine Metal Ligand in the argE-Encoded N-Acetyl-L-Ornithine Deacetylase from Escherichia coli. SpringerPlus, 2482. https://doi.org/10.1186/2193-1801-2-482
McGregor, Wade C, et al. "Identification of a Histidine Metal Ligand in the argE-Encoded N-Acetyl-L-Ornithine Deacetylase from Escherichia coli." SpringerPlus vol. 2 (2013): 482. doi: https://doi.org/10.1186/2193-1801-2-482
McGregor WC, Gillner DM, Swierczek SI, Liu D, Holz RC. Identification of a Histidine Metal Ligand in the argE-Encoded N-Acetyl-L-Ornithine Deacetylase from Escherichia coli. Springerplus. 2013 Sep 23;2:482. doi: 10.1186/2193-1801-2-482. eCollection 2013. PMID: 25674394; PMCID: PMC4320195.
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Intracranial Pressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemia in a Child with Ornithine Transcarbamylase Deficiency.

JIMD reports

Chantreuil J, Favrais G, Fakhri N, Tardieu M, Roullet-Renoleau N, Perez T, Travers N, Barantin L, Morel B, Saliba E, Labarthe F.
PMID: 26427994
JIMD Rep. 2016;27:55-62. doi: 10.1007/8904_2015_486. Epub 2015 Oct 02.

BACKGROUND: Ornithine transcarbamylase deficiency (OTCD) is an inborn error of urea cycle resulting in increased plasma levels of ammonia and glutamine and cerebral edema. However, the underlying mechanism of brain cytotoxicity remains controversial. Our objective is to present an...

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Chantreuil J, Favrais G, Fakhri N, et al. Intracranial Pressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemia in a Child with Ornithine Transcarbamylase Deficiency. JIMD Rep. 2015;27:55-62doi: 10.1007/8904_2015_486.
Chantreuil, J., Favrais, G., Fakhri, N., Tardieu, M., Roullet-Renoleau, N., Perez, T., Travers, N., Barantin, L., Morel, B., Saliba, E., & Labarthe, F. (2016). Intracranial Pressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemia in a Child with Ornithine Transcarbamylase Deficiency. JIMD reports, 2755-62. https://doi.org/10.1007/8904_2015_486
Chantreuil, Julie, et al. "Intracranial Pressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemia in a Child with Ornithine Transcarbamylase Deficiency." JIMD reports vol. 27 (2016): 55-62. doi: https://doi.org/10.1007/8904_2015_486
Chantreuil J, Favrais G, Fakhri N, Tardieu M, Roullet-Renoleau N, Perez T, Travers N, Barantin L, Morel B, Saliba E, Labarthe F. Intracranial Pressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemia in a Child with Ornithine Transcarbamylase Deficiency. JIMD Rep. 2016;27:55-62. doi: 10.1007/8904_2015_486. Epub 2015 Oct 02. PMID: 26427994; PMCID: PMC4864870.
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Acitretin : A Review of its Pharmacology and Therapeutic Use.

Drugs

Pilkington T, Brogden RN.
PMID: 28421560
Drugs. 1992 Apr;43(4):597-627. doi: 10.2165/00003495-199243040-00010.

SYNOPSIS: Acitretin (etretin), a second generation monoaromatic retinoid for use in the treatment of severe psoriasis and other dermatoses, is the major active metabolite of etretinate and possesses a similar therapeutic index; i.e. a similar ratio of clinical efficacy...

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Pilkington T, Brogden RN. Acitretin : A Review of its Pharmacology and Therapeutic Use. Drugs. 1992;43(4):597-627doi: 10.2165/00003495-199243040-00010.
Pilkington, T., & Brogden, R. N. (1992). Acitretin : A Review of its Pharmacology and Therapeutic Use. Drugs, 43(4), 597-627. https://doi.org/10.2165/00003495-199243040-00010
Pilkington, Tania, and Brogden, Rex N. "Acitretin : A Review of its Pharmacology and Therapeutic Use." Drugs vol. 43,4 (1992): 597-627. doi: https://doi.org/10.2165/00003495-199243040-00010
Pilkington T, Brogden RN. Acitretin : A Review of its Pharmacology and Therapeutic Use. Drugs. 1992 Apr;43(4):597-627. doi: 10.2165/00003495-199243040-00010. PMID: 28421560.
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Development of β-Hairpin Peptides for the Measurement of SCF-Family E3 Ligase Activity in Vitro via Ornithine Ubiquitination.

ACS omega

Houston KM, Melvin AT, Woss GS, Fayer EL, Waters ML, Allbritton NL.
PMID: 28393136
ACS Omega. 2017 Mar 31;2(3):1198-1206. doi: 10.1021/acsomega.7b00109. Epub 2017 Mar 29.

Regulation of the ubiquitin-proteasome system (UPS) to treat select types of cancer has become a popular area of drug discovery research. The FDA approval of proteasome inhibitors Bortezomib and Carfilzomib in the treatment of multiple myeloma has led to...

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Houston KM, Melvin AT, Woss GS, et al. Development of β-Hairpin Peptides for the Measurement of SCF-Family E3 Ligase Activity in Vitro via Ornithine Ubiquitination. ACS Omega. 2017;2(3):1198-1206doi: 10.1021/acsomega.7b00109.
Houston, K. M., Melvin, A. T., Woss, G. S., Fayer, E. L., Waters, M. L., & Allbritton, N. L. (2017). Development of β-Hairpin Peptides for the Measurement of SCF-Family E3 Ligase Activity in Vitro via Ornithine Ubiquitination. ACS omega, 2(3), 1198-1206. https://doi.org/10.1021/acsomega.7b00109
Houston, Kaiulani M, et al. "Development of β-Hairpin Peptides for the Measurement of SCF-Family E3 Ligase Activity in Vitro via Ornithine Ubiquitination." ACS omega vol. 2,3 (2017): 1198-1206. doi: https://doi.org/10.1021/acsomega.7b00109
Houston KM, Melvin AT, Woss GS, Fayer EL, Waters ML, Allbritton NL. Development of β-Hairpin Peptides for the Measurement of SCF-Family E3 Ligase Activity in Vitro via Ornithine Ubiquitination. ACS Omega. 2017 Mar 31;2(3):1198-1206. doi: 10.1021/acsomega.7b00109. Epub 2017 Mar 29. PMID: 28393136; PMCID: PMC5377275.
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Proliferation and motility of hepatocellular, pancreatic and gastric cancer cells grown in a medium without glucose and arginine, but with galactose and ornithine.

Oncology letters

Tomizawa M, Shinozaki F, Motoyoshi Y, Sugiyama T, Yamamoto S, Ishige N.
PMID: 28454246
Oncol Lett. 2017 Mar;13(3):1276-1280. doi: 10.3892/ol.2017.5568. Epub 2017 Jan 04.

Human primary hepatocytes are able to survive in a medium without glucose and arginine, but supplemented with galactose and ornithine (hepatocyte selection medium; HSM). To address the possibility of the application of HSM in cancer therapy, hepatocellular carcinoma cells,...

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Tomizawa M, Shinozaki F, Motoyoshi Y, et al. Proliferation and motility of hepatocellular, pancreatic and gastric cancer cells grown in a medium without glucose and arginine, but with galactose and ornithine. Oncol Lett. 2017;13(3):1276-1280doi: 10.3892/ol.2017.5568.
Tomizawa, M., Shinozaki, F., Motoyoshi, Y., Sugiyama, T., Yamamoto, S., & Ishige, N. (2017). Proliferation and motility of hepatocellular, pancreatic and gastric cancer cells grown in a medium without glucose and arginine, but with galactose and ornithine. Oncology letters, 13(3), 1276-1280. https://doi.org/10.3892/ol.2017.5568
Tomizawa, Minoru, et al. "Proliferation and motility of hepatocellular, pancreatic and gastric cancer cells grown in a medium without glucose and arginine, but with galactose and ornithine." Oncology letters vol. 13,3 (2017): 1276-1280. doi: https://doi.org/10.3892/ol.2017.5568
Tomizawa M, Shinozaki F, Motoyoshi Y, Sugiyama T, Yamamoto S, Ishige N. Proliferation and motility of hepatocellular, pancreatic and gastric cancer cells grown in a medium without glucose and arginine, but with galactose and ornithine. Oncol Lett. 2017 Mar;13(3):1276-1280. doi: 10.3892/ol.2017.5568. Epub 2017 Jan 04. PMID: 28454246; PMCID: PMC5403308.
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Arginine-Restricted Therapy Resistant Bilateral Macular Edema Associated with Gyrate Atrophy.

Case reports in ophthalmological medicine

Doguizi S, Sekeroglu MA, Anayol MA, Yilmazbas P.
PMID: 26770854
Case Rep Ophthalmol Med. 2015;2015:137270. doi: 10.1155/2015/137270. Epub 2015 Dec 06.

Introduction. Gyrate atrophy is a rare genetical metabolic disorder affecting vision. Here, we report a 9-year-old boy with gyrate atrophy associated with bilateral macular edema at the time of diagnosis and the effect of long term metabolic control on...

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Doguizi S, Sekeroglu MA, Anayol MA, et al. Arginine-Restricted Therapy Resistant Bilateral Macular Edema Associated with Gyrate Atrophy. Case Rep Ophthalmol Med. 2015;2015:137270doi: 10.1155/2015/137270.
Doguizi, S., Sekeroglu, M. A., Anayol, M. A., & Yilmazbas, P. (2015). Arginine-Restricted Therapy Resistant Bilateral Macular Edema Associated with Gyrate Atrophy. Case reports in ophthalmological medicine, 2015137270. https://doi.org/10.1155/2015/137270
Doguizi, Sibel, et al. "Arginine-Restricted Therapy Resistant Bilateral Macular Edema Associated with Gyrate Atrophy." Case reports in ophthalmological medicine vol. 2015 (2015): 137270. doi: https://doi.org/10.1155/2015/137270
Doguizi S, Sekeroglu MA, Anayol MA, Yilmazbas P. Arginine-Restricted Therapy Resistant Bilateral Macular Edema Associated with Gyrate Atrophy. Case Rep Ophthalmol Med. 2015;2015:137270. doi: 10.1155/2015/137270. Epub 2015 Dec 06. PMID: 26770854; PMCID: PMC4684840.
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Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency.

3 Biotech

Magesh R, George Priya Doss C.
PMID: 28324312
3 Biotech. 2014 Dec;4(6):621-634. doi: 10.1007/s13205-014-0216-y. Epub 2014 Apr 24.

Ornithine transcarbamylase (OTC) (E.C. 2.1.3.3) is one of the enzymes in the urea cycle, which involves in a sequence of reactions in the liver cells. During protein assimilation in our body surplus nitrogen is made, this open nitrogen is...

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Magesh R, George Priya Doss C. Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency. 3 Biotech. 2014;4(6):621-634doi: 10.1007/s13205-014-0216-y.
Magesh, R., & George Priya Doss, C. (2014). Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency. 3 Biotech, 4(6), 621-634. https://doi.org/10.1007/s13205-014-0216-y
Magesh, R, and George Priya Doss, C. "Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency." 3 Biotech vol. 4,6 (2014): 621-634. doi: https://doi.org/10.1007/s13205-014-0216-y
Magesh R, George Priya Doss C. Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency. 3 Biotech. 2014 Dec;4(6):621-634. doi: 10.1007/s13205-014-0216-y. Epub 2014 Apr 24. PMID: 28324312; PMCID: PMC4235886.
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Polyamines directly promote antizyme-mediated degradation of ornithine decarboxylase by the proteasome.

Microbial cell (Graz, Austria)

Beenukumar RR, Gödderz D, Palanimurugan R, Dohmen RJ.
PMID: 28357293
Microb Cell. 2015 May 20;2(6):197-207. doi: 10.15698/mic2015.06.206.

Ornithine decarboxylase (ODC), a ubiquitin-independent substrate of the proteasome, is a homodimeric protein with a rate-limiting function in polyamine biosynthesis. Polyamines regulate ODC levels by a feedback mechanism mediated by ODC antizyme (OAZ). Higher cellular polyamine levels trigger the...

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Beenukumar RR, Gödderz D, Palanimurugan R, et al. Polyamines directly promote antizyme-mediated degradation of ornithine decarboxylase by the proteasome. Microb Cell. 2015;2(6):197-207doi: 10.15698/mic2015.06.206.
Beenukumar, R. R., Gödderz, D., Palanimurugan, R., & Dohmen, R. J. (2015). Polyamines directly promote antizyme-mediated degradation of ornithine decarboxylase by the proteasome. Microbial cell (Graz, Austria), 2(6), 197-207. https://doi.org/10.15698/mic2015.06.206
Beenukumar, R R, et al. "Polyamines directly promote antizyme-mediated degradation of ornithine decarboxylase by the proteasome." Microbial cell (Graz, Austria) vol. 2,6 (2015): 197-207. doi: https://doi.org/10.15698/mic2015.06.206
Beenukumar RR, Gödderz D, Palanimurugan R, Dohmen RJ. Polyamines directly promote antizyme-mediated degradation of ornithine decarboxylase by the proteasome. Microb Cell. 2015 May 20;2(6):197-207. doi: 10.15698/mic2015.06.206. PMID: 28357293; PMCID: PMC5349141.
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Effect of Arginase-1 Inhibition on the Incidence of Autoimmune Diabetes in NOD Mice.

Current research in diabetes & obesity journal

Hernandez LF, Buchwald P, Abdulreda MH.
PMID: 29450408
Curr Res Diabetes Obes J. 2018 Jan;5(3). Epub 2018 Aug 01.

Metabolism of the amino acid L-arginine is implicated in many physiological and pathophysiological processes including autoimmune conditions such as type 1 diabetes (T1D). Alternate arginine metabolism through the citrulline-nitric oxide (NO) or the ornithine pathways can lead to proinflammatory...

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Hernandez LF, Buchwald P, Abdulreda MH. Effect of Arginase-1 Inhibition on the Incidence of Autoimmune Diabetes in NOD Mice. Curr Res Diabetes Obes J. 2018;5(3)
Hernandez, L. F., Buchwald, P., & Abdulreda, M. H. (2018). Effect of Arginase-1 Inhibition on the Incidence of Autoimmune Diabetes in NOD Mice. Current research in diabetes & obesity journal, 5(3), .
Hernandez, Luis F, et al. "Effect of Arginase-1 Inhibition on the Incidence of Autoimmune Diabetes in NOD Mice." Current research in diabetes & obesity journal vol. 5,3 (2018).
Hernandez LF, Buchwald P, Abdulreda MH. Effect of Arginase-1 Inhibition on the Incidence of Autoimmune Diabetes in NOD Mice. Curr Res Diabetes Obes J. 2018 Jan;5(3). Epub 2018 Aug 01. PMID: 29450408; PMCID: PMC5810145.
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Spermidine is protective against kidney ischemia and reperfusion injury through inhibiting DNA nitration and PARP1 activation.

Anatomy & cell biology

Kim J.
PMID: 29043098
Anat Cell Biol. 2017 Sep;50(3):200-206. doi: 10.5115/acb.2017.50.3.200. Epub 2017 Sep 20.

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 elusive. Spermidine, a naturally occurring polyamine, protects yeast cells...

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Kim J. Spermidine is protective against kidney ischemia and reperfusion injury through inhibiting DNA nitration and PARP1 activation. Anat Cell Biol. 2017;50(3):200-206doi: 10.5115/acb.2017.50.3.200.
Kim, J. (2017). Spermidine is protective against kidney ischemia and reperfusion injury through inhibiting DNA nitration and PARP1 activation. Anatomy & cell biology, 50(3), 200-206. https://doi.org/10.5115/acb.2017.50.3.200
Kim, Jinu. "Spermidine is protective against kidney ischemia and reperfusion injury through inhibiting DNA nitration and PARP1 activation." Anatomy & cell biology vol. 50,3 (2017): 200-206. doi: https://doi.org/10.5115/acb.2017.50.3.200
Kim J. Spermidine is protective against kidney ischemia and reperfusion injury through inhibiting DNA nitration and PARP1 activation. Anat Cell Biol. 2017 Sep;50(3):200-206. doi: 10.5115/acb.2017.50.3.200. Epub 2017 Sep 20. PMID: 29043098; PMCID: PMC5639174.
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Hyperhomocysteinemia, Suppressed Immunity, and Altered Oxidative Metabolism Caused by Pathogenic Microbes in Atherosclerosis and Dementia.

Frontiers in aging neuroscience

McCully KS.
PMID: 29056905
Front Aging Neurosci. 2017 Oct 06;9:324. doi: 10.3389/fnagi.2017.00324. eCollection 2017.

Many pathogenic microorganisms have been demonstrated in atherosclerotic plaques and in cerebral plaques in dementia. Hyperhomocysteinemia, which is a risk factor for atherosclerosis and dementia, is caused by dysregulation of methionine metabolism secondary to deficiency of the allosteric regulator,...

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McCully KS. Hyperhomocysteinemia, Suppressed Immunity, and Altered Oxidative Metabolism Caused by Pathogenic Microbes in Atherosclerosis and Dementia. Front Aging Neurosci. 2017;9:324doi: 10.3389/fnagi.2017.00324.
McCully, K. S. (2017). Hyperhomocysteinemia, Suppressed Immunity, and Altered Oxidative Metabolism Caused by Pathogenic Microbes in Atherosclerosis and Dementia. Frontiers in aging neuroscience, 9324. https://doi.org/10.3389/fnagi.2017.00324
McCully, Kilmer S. "Hyperhomocysteinemia, Suppressed Immunity, and Altered Oxidative Metabolism Caused by Pathogenic Microbes in Atherosclerosis and Dementia." Frontiers in aging neuroscience vol. 9 (2017): 324. doi: https://doi.org/10.3389/fnagi.2017.00324
McCully KS. Hyperhomocysteinemia, Suppressed Immunity, and Altered Oxidative Metabolism Caused by Pathogenic Microbes in Atherosclerosis and Dementia. Front Aging Neurosci. 2017 Oct 06;9:324. doi: 10.3389/fnagi.2017.00324. eCollection 2017. PMID: 29056905; PMCID: PMC5635055.
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