uracil has been researched along with Ornithine Carbamoyltransferase Deficiency Disease in 14 studies
2,4-dihydroxypyrimidine: a urinary biomarker for bipolar disorder
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 |
|---|---|---|
| "Uracil and orotic acid concentrations were analyzed in three female patients with OTCD at both the hyperammonemia-attack and interval stages." | 3.73 | Urinary uracil in female patients with ornithine transcarbamylase deficiency. ( Ban, K; Imaeda, M; Ito, T; Ohkubo, Y; Sumi, S; Togari, H; Ueta, A, 2005) |
| "A presumptive diagnosis of ornithine transcarbamylase deficiency was made on the basis of the detection of orotic acid and uracil." | 1.32 | A suspected case of ornithine transcarbamylase deficiency in a cat. ( Matsumoto, I; Sawamura, M; Suzuki, T; Washizu, M; Washizu, T; Zhang, C, 2004) |
| "A patient with partial ornithine transcarbamylase deficiency and his mother usually excreted a high level of uracil during the period of normal orotic acid excretion and normal serum ammonia level." | 1.28 | Automated determination of orotic acid, uracil and pseudouridine in urine by high-performance liquid chromatography with column switching. ( Katoh, T; Kibe, T; Kidouchi, K; Kobayashi, M; Ohba, S; Wada, Y, 1991) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 2 (14.29) | 18.7374 |
| 1990's | 3 (21.43) | 18.2507 |
| 2000's | 7 (50.00) | 29.6817 |
| 2010's | 1 (7.14) | 24.3611 |
| 2020's | 1 (7.14) | 2.80 |
| Authors | Studies |
|---|---|
| Alsharhan, H | 1 |
| Alharbi, H | 1 |
| Priestley, J | 1 |
| Ganetzky, R | 1 |
| He, M | 1 |
| Auray-Blais, C | 1 |
| Maranda, B | 1 |
| Lavoie, P | 1 |
| Washizu, T | 1 |
| Washizu, M | 1 |
| Zhang, C | 1 |
| Matsumoto, I | 1 |
| Sawamura, M | 1 |
| Suzuki, T | 1 |
| Sumi, S | 3 |
| Imaeda, M | 1 |
| Ito, T | 2 |
| Ueta, A | 2 |
| Ban, K | 2 |
| Ohkubo, Y | 1 |
| Togari, H | 3 |
| Schmidt, C | 1 |
| Hofmann, U | 1 |
| Kohlmüller, D | 1 |
| Mürdter, T | 1 |
| Zanger, UM | 1 |
| Schwab, M | 1 |
| Hoffmann, GF | 1 |
| Jakobs, C | 1 |
| Sweetman, L | 1 |
| Nyhan, WL | 2 |
| Gruenke, L | 1 |
| Craig, JC | 1 |
| Wadman, SK | 2 |
| Van Acker, KJ | 1 |
| Eyskens, FJ | 1 |
| Verkerk, RM | 1 |
| Scharpé, SS | 1 |
| Matsuura, T | 1 |
| Kidouchi, K | 4 |
| Kubota, M | 1 |
| Kitou, O | 1 |
| Mikami, H | 1 |
| Ohura, T | 1 |
| Matsuda, I | 1 |
| Wada, Y | 4 |
| Wiltshire, EJ | 1 |
| Poplawski, NK | 1 |
| Harbord, MG | 1 |
| Harrison, RJ | 1 |
| Fletcher, JM | 1 |
| Hamajima, N | 1 |
| Fujimoto, S | 1 |
| Barshop, BA | 1 |
| Climent, C | 1 |
| Rubio, V | 1 |
| van Gennip, AH | 1 |
| Grift, J | 1 |
| de Bree, PK | 1 |
| Zegers, BJ | 1 |
| Stoop, JW | 1 |
| Ohba, S | 2 |
| Nakamura, C | 1 |
| Katoh, T | 2 |
| Kobayashi, M | 2 |
| Kibe, T | 1 |
14 other studies available for uracil and Ornithine Carbamoyltransferase Deficiency Disease
| Article | Year |
|---|---|
Urinary Uracil: A Useful Marker for Ornithine Transcarbamylase Deficiency in Affected Males.
Topics: Biomarkers; Humans; Infant; Male; Ornithine Carbamoyltransferase Deficiency Disease; Uracil | 2020 |
High-throughput tandem mass spectrometry multiplex analysis for newborn urinary screening of creatine synthesis and transport disorders, Triple H syndrome and OTC deficiency.
Topics: Biomarkers; Creatine; Creatinine; Filtration; Glycine; Humans; Hyperammonemia; Infant, Newborn; Orni | 2014 |
A suspected case of ornithine transcarbamylase deficiency in a cat.
Topics: Alanine Transaminase; Animals; Aspartate Aminotransferases; Bile Acids and Salts; Cat Diseases; Cats | 2004 |
Urinary uracil in female patients with ornithine transcarbamylase deficiency.
Topics: Child, Preschool; Female; Heterozygote; Humans; Hyperammonemia; Infant; Ornithine Carbamoyltransfera | 2005 |
Comprehensive analysis of pyrimidine metabolism in 450 children with unspecific neurological symptoms using high-pressure liquid chromatography-electrospray ionization tandem mass spectrometry.
Topics: Adolescent; beta-Alanine; Child; Child, Preschool; Chromatography, High Pressure Liquid; Dihydropyri | 2005 |
Stable isotope dilution analysis of orotic acid and uracil in amniotic fluid.
Topics: Amniotic Fluid; Argininosuccinate Synthase; Chromatography, Liquid; Female; Gas Chromatography-Mass | 1984 |
Urinary excretion of purine and pyrimidine metabolites in the neonate.
Topics: Chromatography; Evaluation Studies as Topic; Female; Heterozygote; Humans; Infant, Newborn; Male; Ma | 1993 |
Detection of ornithine transcarbamylase deficiency heterozygotes by measuring of urinary uracil.
Topics: Female; Genetic Carrier Screening; Humans; Models, Biological; Ornithine Carbamoyltransferase Defici | 2000 |
Ornithine carbamoyltransferase deficiency presenting with chorea in a female.
Topics: Alanine; Chorea; Female; Glutamine; Humans; Infant; Ornithine Carbamoyltransferase Deficiency Diseas | 2000 |
Intra-day variations in urinary pyrimidines in ornithine carbamoyltransferase deficiency and healthy individuals.
Topics: Adult; Child; Child, Preschool; Circadian Rhythm; Female; Humans; Infant; Male; Ornithine Carbamoylt | 2001 |
Pitfalls in the detection of heterozygosity by allopurinol in a variant form of ornithine carbamoyltransferase deficiency.
Topics: Allopurinol; Child; False Negative Reactions; Female; Genetic Carrier Screening; Humans; Mutation; O | 2001 |
Urinary excretion of orotic acid, orotidine and other pyrimidines in a patient with purine nucleoside phosphorylase deficiency.
Topics: Allopurinol; Child; Child, Preschool; Chromatography, High Pressure Liquid; Deoxycytidine; Humans; I | 1979 |
Reference values of orotic acid, uracil and pseudouridine in urine.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography, Hi | 1991 |
Automated determination of orotic acid, uracil and pseudouridine in urine by high-performance liquid chromatography with column switching.
Topics: Adolescent; Adult; Child; Child, Preschool; Chromatography, High Pressure Liquid; Female; Humans; In | 1991 |