orotic acid has been researched along with Inborn Urea Cycle Disorder in 5 studies
Orotic Acid: An intermediate product in PYRIMIDINE synthesis which plays a role in chemical conversions between DIHYDROFOLATE and TETRAHYDROFOLATE.
orotic acid : A pyrimidinemonocarboxylic acid that is uracil bearing a carboxy substituent at position C-6.
| Excerpt | Relevance | Reference |
|---|---|---|
| "We identified mild and isolated orotic aciduria in 11 unrelated individuals with diverse clinical signs and symptoms, the most common denominator being intellectual disability/developmental delay." | 3.85 | Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. ( Alhaddad, B; Botto, LD; Chen, MA; Colombo, R; Coughlin, CR; Descartes, M; Grűnewald, S; Kluijtmans, LA; Maranda, B; Mills, PB; Pai, EF; Pitt, J; Pontoglio, A; Potente, C; Rodenburg, R; Sampath, S; Tiller, GE; Wevers, RA; Wortmann, SB; Yuzyuk, T, 2017) |
| "Urea cycle disorders (UCDs), including OTC deficiency (OTCD), are life-threatening diseases with a broad clinical spectrum." | 1.62 | The role of orotic acid measurement in routine newborn screening for urea cycle disorders. ( Abu Salah, N; Almashanu, S; Anikster, Y; Banne, E; Blau, A; Daas, S; Dar, D; Dumin, E; Falik-Zaccai, T; Fattal-Valevski, A; Hershkovitz, E; Josefsberg, S; Keidar, R; Khammash, H; Korman, SH; Landau, Y; Lerman-Sagie, T; Mandel, D; Mandel, H; Marom, R; Morag, I; Nadir, E; Pode-Shakked, B; Pras, E; Reznik-Wolf, H; Rostami, N; Saada, A; Saraf-Levy, T; Segel, R; Shaag, A; Shaul Lotan, N; Spiegel, R; Staretz-Chacham, O; Tal, G; Ulanovsky, I; Vaisid, T; Yosha-Orpaz, N; Zeharia, A, 2021) |
| "Orotic acid was extracted from DBS punches and analyzed using flow-injection analysis tandem mass spectrometry (FIA-MS/MS) with negative-mode ionization, requiring <2 min/sample run time." | 1.40 | Development of an assay to simultaneously measure orotic acid, amino acids, and acylcarnitines in dried blood spots. ( Baker, MW; De Jesús, VR; Haynes, CA; Held, PK, 2014) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 4 (80.00) | 24.3611 |
| 2020's | 1 (20.00) | 2.80 |
| Authors | Studies |
|---|---|
| Staretz-Chacham, O | 1 |
| Daas, S | 1 |
| Ulanovsky, I | 1 |
| Blau, A | 1 |
| Rostami, N | 1 |
| Saraf-Levy, T | 1 |
| Abu Salah, N | 1 |
| Anikster, Y | 1 |
| Banne, E | 1 |
| Dar, D | 1 |
| Dumin, E | 1 |
| Fattal-Valevski, A | 1 |
| Falik-Zaccai, T | 1 |
| Hershkovitz, E | 1 |
| Josefsberg, S | 1 |
| Khammash, H | 1 |
| Keidar, R | 1 |
| Korman, SH | 1 |
| Landau, Y | 1 |
| Lerman-Sagie, T | 1 |
| Mandel, D | 1 |
| Mandel, H | 1 |
| Marom, R | 1 |
| Morag, I | 1 |
| Nadir, E | 1 |
| Yosha-Orpaz, N | 1 |
| Pode-Shakked, B | 1 |
| Pras, E | 1 |
| Reznik-Wolf, H | 1 |
| Saada, A | 1 |
| Segel, R | 1 |
| Shaag, A | 1 |
| Shaul Lotan, N | 1 |
| Spiegel, R | 1 |
| Tal, G | 1 |
| Vaisid, T | 1 |
| Zeharia, A | 1 |
| Almashanu, S | 1 |
| Held, PK | 1 |
| Haynes, CA | 1 |
| De Jesús, VR | 1 |
| Baker, MW | 1 |
| Auray-Blais, C | 1 |
| Maranda, B | 2 |
| Lavoie, P | 1 |
| Wortmann, SB | 1 |
| Chen, MA | 1 |
| Colombo, R | 1 |
| Pontoglio, A | 1 |
| Alhaddad, B | 1 |
| Botto, LD | 1 |
| Yuzyuk, T | 1 |
| Coughlin, CR | 1 |
| Descartes, M | 1 |
| Grűnewald, S | 1 |
| Mills, PB | 1 |
| Pitt, J | 1 |
| Potente, C | 1 |
| Rodenburg, R | 1 |
| Kluijtmans, LA | 1 |
| Sampath, S | 1 |
| Pai, EF | 1 |
| Wevers, RA | 1 |
| Tiller, GE | 1 |
| Chen, J | 1 |
| Bennett, MJ | 1 |
5 other studies available for orotic acid and Inborn Urea Cycle Disorder
| Article | Year |
|---|---|
The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
Topics: Citrulline; Dried Blood Spot Testing; Female; Humans; Infant, Newborn; Israel; Male; Neonatal Screen | 2021 |
Development of an assay to simultaneously measure orotic acid, amino acids, and acylcarnitines in dried blood spots.
Topics: Amino Acids; Carnitine; Dried Blood Spot Testing; Female; Flow Injection Analysis; Humans; Infant; I | 2014 |
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 |
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
Topics: Anemia, Megaloblastic; Child; Child, Preschool; Female; Heterozygote; Humans; Infant; Intellectual D | 2017 |
Quantitation of orotic acid in urine using isotope dilution-selected ion gas chromatography-mass spectrometry.
Topics: Gas Chromatography-Mass Spectrometry; Humans; Orotic Acid; Reproducibility of Results; Trimethylsily | 2010 |