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carbamyl phosphate and Deficiency Disease, Ornithine Carbamoyltransferase

carbamyl phosphate has been researched along with Deficiency Disease, Ornithine Carbamoyltransferase in 9 studies

Carbamyl Phosphate: The monoanhydride of carbamic acid with PHOSPHORIC ACID. It is an important intermediate metabolite and is synthesized enzymatically by CARBAMYL-PHOSPHATE SYNTHASE (AMMONIA) and CARBAMOYL-PHOSPHATE SYNTHASE (GLUTAMINE-HYDROLYZING).

Research Excerpts

ExcerptRelevanceReference
"3 kb of the 5' flanking region of the rat OTC gene fused to rat OTC cDNA on urinary orotic acid excretion in OTC-deficient spf-ash (sparse-fur with abnormal skin and hair) mice during overnight-starvation and nitrogen loading."3.69Importance of ornithine transcarbamylase (OTC) deficiency in small intestine for urinary orotic acid excretion: analysis of OTC-deficient spf-ash mice with OTC transgene. ( Horiuchi, M; Kobayashi, K; Mori, K; Mori, M; Obara, T; Saheki, T; Shige, T; Suzuki, S; Yamamura, K, 1995)
"Metabolic observations during early stages of hyperammonemia in two infants with ornithine transcarbamylase deficiency suggest that plasma alpha-ketoglutarate concentration ([alpha-KG]) becomes subnormal before the development of hyperammonemic coma."3.66Plasma alpha-ketoglutarate in urea cycle enzymopathies and its role as a harbinger of hyperammonemic coma. ( Batshaw, ML; Brusilow, SW; Walser, M, 1980)
"OTC deficiency is an X-linked genetic disorder ranging from fatal in newborns to hyperammonemia and anorexia in adults."1.35Lysine 88 acetylation negatively regulates ornithine carbamoyltransferase activity in response to nutrient signals. ( Guan, KL; Huang, W; Lei, Q; Lin, Y; Xiong, Y; Yao, J; Yu, W; Zhao, S, 2009)
"An unusual form of ornithine transcarbamylase deficiency was found in a male child who became unconscious at 8 months."1.27Immunological evidence for an ornithine transcarbamylase lesion resulting in the formation of enzyme with smaller protein subunits. ( Danks, DM; Hoogenraad, N; Luisa de Martinis, M, 1983)

Research

Studies (9)

TimeframeStudies, this research(%)All Research%
pre-19906 (66.67)18.7374
1990's1 (11.11)18.2507
2000's1 (11.11)29.6817
2010's1 (11.11)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Kok, CY1
Cunningham, SC1
Kuchel, PW1
Alexander, IE1
Yu, W1
Lin, Y1
Yao, J1
Huang, W1
Lei, Q1
Xiong, Y1
Zhao, S1
Guan, KL1
Hoogenraad, N1
Luisa de Martinis, M1
Danks, DM1
Spector, EB1
Mazzocchi, RA1
Batshaw, ML2
Walser, M1
Brusilow, SW1
Nagata, N1
Akaboshi, I1
Yamamoto, J1
Matsuda, I1
Ohtsuka, H1
Katsuki, T1
Saheki, T1
Mori, K1
Kobayashi, K1
Horiuchi, M1
Shige, T1
Obara, T1
Suzuki, S1
Mori, M1
Yamamura, K1
Rabier, D1
Benoit, A1
Petit, F1
Chekoury, A1
Bonnefont, JP1
Saudubray, JM1
Kamoun, P1

Other Studies

9 other studies available for carbamyl phosphate and Deficiency Disease, Ornithine Carbamoyltransferase

ArticleYear
Insights into Gene Therapy for Urea Cycle Defects by Mathematical Modeling.
    Human gene therapy, 2019, Volume: 30, Issue:11

    Topics: Carbamyl Phosphate; Computer Simulation; Genetic Therapy; Humans; Models, Biological; Ornithine Carb

2019
Lysine 88 acetylation negatively regulates ornithine carbamoyltransferase activity in response to nutrient signals.
    The Journal of biological chemistry, 2009, May-15, Volume: 284, Issue:20

    Topics: Acetylation; Carbamyl Phosphate; Cell Line; Humans; Infant, Newborn; Kinetics; Lysine; Mutation; Orn

2009
Immunological evidence for an ornithine transcarbamylase lesion resulting in the formation of enzyme with smaller protein subunits.
    Journal of inherited metabolic disease, 1983, Volume: 6, Issue:4

    Topics: Carbamyl Phosphate; Humans; Immunologic Techniques; Infant; Kinetics; Liver; Macromolecular Substanc

1983
The sparse fur mouse: an animal model for a human inborn error of metabolism of the urea cycle.
    Progress in clinical and biological research, 1983, Volume: 127

    Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Carbamyl Phosphate; Disease Models, Animal;

1983
Plasma alpha-ketoglutarate in urea cycle enzymopathies and its role as a harbinger of hyperammonemic coma.
    Pediatric research, 1980, Volume: 14, Issue:12

    Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argini

1980
Ornithine transcarbamylase (OTC) in white blood cells.
    Pediatric research, 1980, Volume: 14, Issue:12

    Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Carbamyl Phosphate; Carbon Radioisotopes; Ca

1980
Importance of ornithine transcarbamylase (OTC) deficiency in small intestine for urinary orotic acid excretion: analysis of OTC-deficient spf-ash mice with OTC transgene.
    Biochimica et biophysica acta, 1995, Jan-25, Volume: 1270, Issue:1

    Topics: Animals; Carbamyl Phosphate; Intestine, Small; Liver; Mice; Mice, Inbred C57BL; Mice, Transgenic; Ni

1995
Ornithine carbamoyltransferase deficiency. A new variant with subnormal enzyme activity.
    Clinica chimica acta; international journal of clinical chemistry, 1989, Dec-29, Volume: 186, Issue:1

    Topics: Amino Acids; Carbamyl Phosphate; Humans; Hydrogen-Ion Concentration; Infant; Kinetics; Liver; Male;

1989
The diagnosis of ornithine transcarbamylase deficiency.
    Journal of pediatric gastroenterology and nutrition, 1985, Volume: 4, Issue:1

    Topics: Animals; Carbamyl Phosphate; Citrulline; Coma; Female; Humans; Infant; Infant, Newborn; Intellectual

1985