carbamyl phosphate has been researched along with Ornithine Carbamoyltransferase Deficiency Disease 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).
Ornithine Carbamoyltransferase Deficiency Disease: An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)
| Excerpt | Relevance | Reference |
|---|---|---|
| "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." | 3.69 | Importance 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." | 3.66 | Plasma 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." | 1.35 | Lysine 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." | 1.27 | Immunological 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) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 6 (66.67) | 18.7374 |
| 1990's | 1 (11.11) | 18.2507 |
| 2000's | 1 (11.11) | 29.6817 |
| 2010's | 1 (11.11) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Kok, CY | 1 |
| Cunningham, SC | 1 |
| Kuchel, PW | 1 |
| Alexander, IE | 1 |
| Yu, W | 1 |
| Lin, Y | 1 |
| Yao, J | 1 |
| Huang, W | 1 |
| Lei, Q | 1 |
| Xiong, Y | 1 |
| Zhao, S | 1 |
| Guan, KL | 1 |
| Hoogenraad, N | 1 |
| Luisa de Martinis, M | 1 |
| Danks, DM | 1 |
| Spector, EB | 1 |
| Mazzocchi, RA | 1 |
| Batshaw, ML | 2 |
| Walser, M | 1 |
| Brusilow, SW | 1 |
| Nagata, N | 1 |
| Akaboshi, I | 1 |
| Yamamoto, J | 1 |
| Matsuda, I | 1 |
| Ohtsuka, H | 1 |
| Katsuki, T | 1 |
| Saheki, T | 1 |
| Mori, K | 1 |
| Kobayashi, K | 1 |
| Horiuchi, M | 1 |
| Shige, T | 1 |
| Obara, T | 1 |
| Suzuki, S | 1 |
| Mori, M | 1 |
| Yamamura, K | 1 |
| Rabier, D | 1 |
| Benoit, A | 1 |
| Petit, F | 1 |
| Chekoury, A | 1 |
| Bonnefont, JP | 1 |
| Saudubray, JM | 1 |
| Kamoun, P | 1 |
9 other studies available for carbamyl phosphate and Ornithine Carbamoyltransferase Deficiency Disease
| Article | Year |
|---|---|
Insights into Gene Therapy for Urea Cycle Defects by Mathematical Modeling.
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.
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.
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.
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.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argini | 1980 |
Ornithine transcarbamylase (OTC) in white blood cells.
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.
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.
Topics: Amino Acids; Carbamyl Phosphate; Humans; Hydrogen-Ion Concentration; Infant; Kinetics; Liver; Male; | 1989 |
The diagnosis of ornithine transcarbamylase deficiency.
Topics: Animals; Carbamyl Phosphate; Citrulline; Coma; Female; Humans; Infant; Infant, Newborn; Intellectual | 1985 |