orotic acid has been researched along with Purine Pyrimidine Metabolism, Inborn Errors in 66 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) |
| "Orotic acid is an important representative of the pyrimidines, the pathophysiological importance of which is less well-known in comparison to the purines." | 2.65 | [Metabolic effects of orotic acid]. ( Müller, G, 1984) |
| " We speculate that 5-FU cytotoxic effects, both anti-tumor effects and adverse reactions, would be weak when a patient with hereditary orotic aciduria was treated with 5-FU." | 1.31 | Decreased fluorouracil cytotoxic effect on EB-virus transformed lymphocytes from hereditary orotic aciduria. ( Andou, M; Sumi, S; Togari, H; Wada, Y, 2000) |
| " Although the uridine dosage (0." | 1.26 | Purine and pyrimidine metabolism in hereditary orotic aciduria: some unexpected effects of allopurinol. ( Becroft, DM; Potter, CF; Simmonds, HA; Webster, DR, 1980) |
| "Orotic aciduria was present (max: 693 mg/day) and was related to NH4 levels." | 1.25 | [Chronic hyperammonemia with orotic aciduria: evidence of pyrimidine pathway stimulation (author's transl)]. ( Beaudry, MA; Collu, R; Dallairf, L; Ducharme, JR; Leboeuf, G; Letarte, J; Melancon, SB, 1975) |
| "Orotic aciduria is a rare autosomal recessive disease in man due to a deficiency of orotate phosphoribosyltransferase (EC 2." | 1.25 | Hereditary orotic aciduria: evidence for a structural gene mutation. ( Grobner, W; Kelley, WN; Worthy, TE, 1974) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 52 (78.79) | 18.7374 |
| 1990's | 9 (13.64) | 18.2507 |
| 2000's | 2 (3.03) | 29.6817 |
| 2010's | 2 (3.03) | 24.3611 |
| 2020's | 1 (1.52) | 2.80 |
| Authors | Studies |
|---|---|
| Vakili, H | 1 |
| Umaña, LA | 1 |
| Patel, K | 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 |
| Maranda, B | 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 |
| Bailey, CJ | 1 |
| FALLON, HJ | 1 |
| FREI, E | 1 |
| BLOCK, J | 1 |
| SEEGMILLER, JE | 2 |
| SMITH, LH | 3 |
| LOTZ, M | 1 |
| WEISSMAN, S | 1 |
| EISEN, AZ | 1 |
| KARON, M | 2 |
| LEWIS, M | 1 |
| WEISSMAN, SM | 1 |
| BECROFT, DM | 5 |
| PHILLIPS, LI | 3 |
| KROOTH, RS | 5 |
| Haggard, ME | 1 |
| Lockhart, LH | 1 |
| Boss, GR | 1 |
| Harley, EH | 1 |
| Berman, P | 1 |
| Hirschhorn, R | 1 |
| Glader, BE | 1 |
| Sullivan, DW | 1 |
| Müller, G | 1 |
| Simmonds, HA | 7 |
| Webster, DR | 4 |
| Potter, CF | 2 |
| Girot, R | 1 |
| Hamet, M | 1 |
| Perignon, JL | 1 |
| Guesnu, M | 1 |
| Fox, RM | 2 |
| Cartier, P | 1 |
| Durandy, A | 1 |
| Griscelli, C | 1 |
| McClard, RW | 1 |
| Black, MJ | 1 |
| Jones, ME | 2 |
| Young, SR | 1 |
| Berkowitz, GP | 1 |
| Yoshino, M | 1 |
| Kubota, K | 1 |
| Yoshida, I | 1 |
| Murakami, T | 1 |
| Yamashita, F | 1 |
| Bachmann, C | 1 |
| Colombo, JP | 1 |
| Paradis, D | 1 |
| Giguere, R | 1 |
| Auray-Blais, C | 1 |
| Draper, P | 1 |
| Lemieux, B | 1 |
| Sumi, S | 5 |
| Kidouchi, K | 4 |
| Ohba, S | 2 |
| Wada, Y | 9 |
| Suchi, M | 3 |
| Morishita, H | 1 |
| Carpenter, KH | 1 |
| Potter, M | 1 |
| Hammond, JW | 1 |
| Wilcken, B | 1 |
| Mizuno, H | 1 |
| Micheli, V | 1 |
| Jacomelli, G | 1 |
| Zammarchi, E | 1 |
| Pompucci, G | 1 |
| Imaeda, M | 1 |
| Imaeda, H | 1 |
| Togari, H | 3 |
| Andou, M | 2 |
| Hamajima, N | 1 |
| van Gennip, AH | 1 |
| Grift, J | 1 |
| de Bree, PK | 1 |
| Zegers, BJ | 1 |
| Stoop, JW | 1 |
| Wadman, SK | 1 |
| Hassan, AS | 1 |
| Milner, JA | 1 |
| Fox, IH | 3 |
| Gröbner, W | 2 |
| Zöllner, N | 1 |
| Van Acker, KJ | 1 |
| Cameron, JS | 2 |
| McBurney, A | 1 |
| Dhondt, JL | 1 |
| Farriaux, JP | 1 |
| Rogers, LE | 1 |
| Nicolaisen, AK | 1 |
| Holt, JG | 1 |
| Beaudry, MA | 1 |
| Letarte, J | 1 |
| Collu, R | 1 |
| Leboeuf, G | 1 |
| Ducharme, JR | 1 |
| Melancon, SB | 1 |
| Dallairf, L | 1 |
| Fairbanks, LD | 3 |
| Duley, JA | 1 |
| Shores, AJ | 1 |
| Perry, ME | 1 |
| Etzioni, A | 1 |
| Gmiński, J | 1 |
| Tarnawski, R | 1 |
| Drózdz, M | 1 |
| Miska, E | 1 |
| Wilson, JD | 1 |
| Shin, YS | 1 |
| Reiter, S | 1 |
| Zelger, O | 1 |
| Brünstler, I | 1 |
| von Rücker, A | 1 |
| Beardmore, TD | 1 |
| Kelley, WN | 4 |
| Zakim, D | 1 |
| Holmes, EW | 1 |
| Mason, DH | 1 |
| Goldstein, LI | 1 |
| Blount, RE | 1 |
| Lam, GF | 1 |
| Chen Kiang, SY | 1 |
| Levin, B | 1 |
| Worthy, TE | 1 |
| Levine, RL | 1 |
| Hoogenraad, NJ | 1 |
| Kretchmer, N | 1 |
| Wood, MH | 1 |
| Royse-Smith, D | 1 |
| O'Sullivan, WJ | 1 |
| Arakawa, T | 1 |
| Sell, EK | 1 |
| Cotton, RG | 1 |
| Camakaris, J | 1 |
| Danks, DM | 1 |
| Simmonds, A | 1 |
| Tubergen, DG | 1 |
| Heyn, RM | 1 |
| Soutter, GB | 1 |
| Yu, J | 1 |
| Lovric, A | 1 |
| Stapleton, T | 1 |
| Wuu, K | 1 |
14 reviews available for orotic acid and Purine Pyrimidine Metabolism, Inborn Errors
| Article | Year |
|---|---|
Orotic aciduria and uridine monophosphate synthase: a reappraisal.
Topics: Adult; Anemia, Megaloblastic; Child; Child, Preschool; Humans; Infant; Kinetics; Metabolic Networks | 2009 |
Genetic defects in human purine and pyrimidine metabolism.
Topics: 5'-Nucleotidase; Adenine Phosphoribosyltransferase; Adenosine Deaminase; Amidophosphoribosyltransfer | 1982 |
The red blood cell as a biopsy tool.
Topics: Biopsy; Carbohydrate Metabolism, Inborn Errors; Erythrocytes; Galactosemias; Gout; Humans; Immunolog | 1981 |
[Overview on inborn errors of purine and pyrimidine metabolism].
Topics: Humans; Hypoxanthine; Orotic Acid; Purine-Pyrimidine Metabolism, Inborn Errors | 1998 |
[Hereditary orotic aciduria].
Topics: Biomarkers; Humans; Orotate Phosphoribosyltransferase; Orotic Acid; Orotidine-5'-Phosphate Decarboxy | 1998 |
Inborn errors of purine and pyrimidine metabolism.
Topics: Animals; Female; Heterozygote; Humans; Lesch-Nyhan Syndrome; Orotic Acid; Pregnancy; Prenatal Diagno | 1976 |
[Disorders of human pyrimidine metabolism (author's transl)].
Topics: Allopurinol; Azauridine; Chemical Phenomena; Chemistry; Cytidine; Folic Acid; Humans; Infant; Male; | 1975 |
[Hereditary orotic aciduria].
Topics: Humans; Infant; Orotic Acid; Purine-Pyrimidine Metabolism, Inborn Errors | 1987 |
Pyrimidine metabolism in man.
Topics: Amidohydrolases; Aminoisobutyric Acids; Aspartate Carbamoyltransferase; Bacteria; Carboxy-Lyases; Cy | 1973 |
Biochemical foundations of preventive medicine: the study of abnormal enzymes.
Topics: Amino Acid Metabolism, Inborn Errors; Cystathionine; Cystathionine gamma-Lyase; Erythrocytes; Genes, | 1974 |
Phosphoribosylpyrophosphate in man: biochemical and clinical significance.
Topics: Adenine; Adrenocorticotropic Hormone; Allopurinol; Animals; Glycogen; Gout; Humans; Lesch-Nyhan Synd | 1971 |
A review: biological and clinical aspects of pyrimidine metabolism.
Topics: Ammonia; Animals; Cats; Cell Transformation, Neoplastic; Cytidine; Glucose; Humans; Isoproterenol; L | 1974 |
[Inborn errors of purine and pyrimidine metabolism].
Topics: Gout; Humans; Orotic Acid; Purine-Pyrimidine Metabolism, Inborn Errors; Transferases; Uracil; Xanthi | 1967 |
[Treatment of congenital purine-pyrimidine metabolism anomalies].
Topics: Athetosis; Chorea; Compulsive Behavior; Gout; Humans; Intellectual Disability; Orotic Acid; Purine-P | 1971 |
2 trials available for orotic acid and Purine Pyrimidine Metabolism, Inborn Errors
| Article | Year |
|---|---|
[Metabolic effects of orotic acid].
Topics: Animals; Fatty Liver; Humans; Hyperlipoproteinemias; Lipids; Liver; Orotate Phosphoribosyltransferas | 1984 |
Benign persistent orotic aciduria and the possibility of misdiagnosis of ornithine carbamoyltransferase deficiency.
Topics: Allopurinol; Child; Child, Preschool; Female; Gas Chromatography-Mass Spectrometry; Gout Suppressant | 1997 |
50 other studies available for orotic acid and Purine Pyrimidine Metabolism, Inborn Errors
| Article | Year |
|---|---|
Isolated Orotic Aciduria in an 11-Year-Old Boy.
Topics: Bone Diseases, Metabolic; Calcium; Child; Developmental Disabilities; Dietary Supplements; Humans; M | 2020 |
In brief: Uridine triacetate (Xuriden) for hereditary orotic aciduria.
Topics: Acetates; Administration, Oral; Biomarkers; Drug Costs; Humans; Orotate Phosphoribosyltransferase; O | 2016 |
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 |
The uricosuria and orotic aciduria induced by 6-azauridine.
Topics: Antineoplastic Agents; Azauridine; Humans; Orotate Phosphoribosyltransferase; Orotic Acid; Orotidine | 1961 |
Studies on congenital orotic aciduria: comparison of orotic acid metabolism in microorganisms.
Topics: Carboxy-Lyases; Escherichia coli; Orotate Phosphoribosyltransferase; Orotic Acid; Orotidine-5'-Phosp | 1963 |
Pseudouridine metabolism. II. Urinary excretion in gout, psoriasis, leukemia, and heterozygous oroticaciduria.
Topics: Gout; Humans; Leukemia; Nucleosides; Nucleotides; Orotate Phosphoribosyltransferase; Orotic Acid; Or | 1962 |
STUDIES ON THE PSEUDOURIDINIURIA OF CHRONIC LYMPHOCYTIC LEUKEMIA.
Topics: Body Fluids; Carbon Isotopes; Fluids and Secretions; Humans; Leukemia; Leukemia, Lymphocytic, Chroni | 1964 |
HEREDITARY OROTIC ACIDURIA AND MEGALOBLASTIC ANAEMIA: A SECOND CASE, WITH RESPONSE TO URIDINE.
Topics: Anemia; Anemia, Macrocytic; Anemia, Megaloblastic; Bone Marrow Examination; Child; Fluids and Secret | 1965 |
HEREDITARY OROTIC ACIDURIA--PYRIMIDINE AUXOTROPHISM IN MAN.
Topics: Anemia; Anemia, Macrocytic; Genetics, Medical; Humans; Male; Orotic Acid; Purine-Pyrimidine Metaboli | 1965 |
PROPERTIES ODF DIPLOID CELL STRAINS DEVELOPED FROM PATIENTS WITH AN INHERITED ABNORMALITY OF URIDINE BIOSYNTHESIS.
Topics: Carboxy-Lyases; Diploidy; Genetics, Medical; Humans; Mutation; Nucleosides; Nucleotidyltransferases; | 1964 |
Megaloblastic anemia and orotic aciduria. A hereditary disorder of pyrimidine metabolism responsive to uridine.
Topics: Anemia, Macrocytic; Bone Marrow Examination; Growth; Humans; Infant; Intellectual Disability; Male; | 1967 |
Diagnostic and therapeutic approaches in pyrimidine 5'-nucleotidase deficiency.
Topics: 5'-Nucleotidase; Clinical Enzyme Tests; Cytidine; Erythrocytes; Humans; Kinetics; Nucleotidases; Oro | 1984 |
Metabolic defects and immunodeficiency disorders.
Topics: Adenosine Deaminase; Antibody Formation; Child; Humans; Immunity, Cellular; Immunologic Deficiency S | 1983 |
Purine and pyrimidine metabolism in hereditary orotic aciduria: some unexpected effects of allopurinol.
Topics: Adolescent; Allopurinol; Diet; Erythrocytes; Humans; Leukocytes; Male; Orotic Acid; Purine-Pyrimidin | 1980 |
Cellular immune deficiency in two siblings with hereditary orotic aciduria.
Topics: Child; Child, Preschool; Humans; Immunity, Cellular; Immunologic Deficiency Syndromes; Male; Orotic | 1983 |
Neonatal diagnosis of orotic aciduria: an experience with one family.
Topics: Child; Child, Preschool; Female; Genes, Recessive; Homozygote; Humans; Infant, Newborn; Male; Orotic | 1983 |
Argininemia: report of a new case and mechanisms of orotic aciduria and hyperammonemia.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child, Preschool; Female; Humans; Hyperargi | 1982 |
Orotic acid in urine and hyperammonemia.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Anion Exchange Resins; Humans; Ornithine Carbamoyltra | 1982 |
An automated method for the determination of orotic acid in the urine of children being screened for metabolic disorders.
Topics: Autoanalysis; Female; Filtration; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Mass Scr | 1980 |
Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography.
Topics: Adenine; Adenosine; Autoanalysis; Chromatography, High Pressure Liquid; Humans; Orotic Acid; Pseudou | 1995 |
Pyrimidine metabolism in hereditary orotic aciduria.
Topics: Child; Follow-Up Studies; Humans; Orotic Acid; Purine-Pyrimidine Metabolism, Inborn Errors; Pyrimidi | 1997 |
Erythrocyte UMP synthetase activity. An HPLC-linked non-radiochemical assay in normal subjects and in one case of oroticaciduria.
Topics: Adult; Age Factors; Aged; Child; Child, Preschool; Chromatography, High Pressure Liquid; Erythrocyte | 1998 |
Hereditary orotic aciduria heterozygotes accompanied with neurological symptoms.
Topics: Cerebral Palsy; Child, Preschool; Humans; Intellectual Disability; Male; Orotate Phosphoribosyltrans | 1998 |
Uracil phosphoribosyltransferase activity in hereditary orotic aciduria.
Topics: Erythrocytes; Humans; Lymphocytes; Orotic Acid; Pentosyltransferases; Purine-Pyrimidine Metabolism, | 1999 |
Decreased fluorouracil cytotoxic effect on EB-virus transformed lymphocytes from hereditary orotic aciduria.
Topics: Antimetabolites; Cell Line, Transformed; Cell Survival; Fluorouracil; Herpesvirus 4, Human; Heterozy | 2000 |
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 |
Orotic aciduria and increased nitrogen catabolism in rats.
Topics: Aging; Animals; Arginine; Dietary Proteins; Male; Nitrogen; Orotic Acid; Purine-Pyrimidine Metabolis | 1979 |
Purine and pyrimidine metabolism in hereditary oroticaciduria during a 15 year follow-up study.
Topics: Allopurinol; Dietary Proteins; Humans; Nucleoproteins; Orotic Acid; Purine-Pyrimidine Metabolism, In | 1979 |
Purine excretion in complete adenine phosphoribosyltransferase deficiency: effect of diet and allopurinol therapy.
Topics: Adenine; Adenine Phosphoribosyltransferase; Allopurinol; Child, Preschool; Diet; Humans; Male; Oroti | 1977 |
[Trial of detection of female carriers for the ornithine-carbamyltransferase deficiency by the urine assay of crotic acid. Apropos of a family study].
Topics: Ammonia; Creatinine; Cytoplasm; Female; Genealogy and Heraldry; Genetic Counseling; Heterozygote; Hu | 1975 |
Hereditary orotic aciduria: results of a screening survey.
Topics: Adult; Carboxy-Lyases; Carboxylic Acids; Erythrocytes; Female; Heterozygote; Humans; Intellectual Di | 1975 |
[Chronic hyperammonemia with orotic aciduria: evidence of pyrimidine pathway stimulation (author's transl)].
Topics: Alanine; Amino Acids; Ammonia; Child, Preschool; Dietary Proteins; Erythrocytes; Growth Disorders; H | 1975 |
HPLC assay of uridine monophosphate synthase (UMPS) in chorionic villus samples (CVS) and erythrocytes (RBC).
Topics: Chorionic Villi; Chromatography, High Pressure Liquid; Erythrocytes; Female; Humans; Multienzyme Com | 1991 |
Usefulness of intact erythrocyte studies in the diagnosis of inherited purine and pyrimidine defects.
Topics: Adenine; Carbon Radioisotopes; Chromatography, High Pressure Liquid; Deoxyadenosines; Erythrocytes; | 1986 |
Orotic aciduria fibroblasts express a labile form of UMP synthase.
Topics: Azauridine; Carboxy-Lyases; Cell Division; Cell Line; Cells, Cultured; Fibroblasts; Humans; Kinetics | 1989 |
Hypogammaglobulinemia in orotic aciduria.
Topics: Agammaglobulinemia; Humans; Infant; Orotic Acid; Purine-Pyrimidine Metabolism, Inborn Errors; Uridin | 1989 |
Hereditary orotic aciduria: further biochemistry.
Topics: Adult; B-Lymphocytes; Chromatography, High Pressure Liquid; Creatinine; Hemoglobins; Humans; Male; O | 1986 |
Orotic aciduria, homocystinuria, formiminoglutamic aciduria and megaloblastosis associated with the formiminotransferase/cyclodeaminase deficiency.
Topics: Ammonia-Lyases; Child, Preschool; Female; Formiminoglutamic Acid; Glutamate Formimidoyltransferase; | 1986 |
Effect of allopurinol on pyrimidine metabolism in the Lesch-Nyhan syndrome.
Topics: Allopurinol; Athetosis; Child; Chorea; Compulsive Behavior; Humans; Intellectual Disability; Orotic | 1970 |
Xanthine oxidase deficiency: studies of a previously unreported case.
Topics: Adult; Allopurinol; Diet; Humans; Hypoxanthines; Intestinal Mucosa; Male; Organophosphorus Compounds | 1974 |
Oxipurinol and orotic aciduria: effect on the orotidine-5'-monophosphate decarboxylase activity of cultured human fibroblasts.
Topics: Barbiturates; Carboxy-Lyases; Cells, Cultured; Female; Fibroblasts; Heterozygote; Homozygote; Humans | 1974 |
Variations in allopurinol metabolism by xanthinuric subjects.
Topics: Allopurinol; Biopsy; Diet; Humans; Jejunum; Liver; Male; Middle Aged; Orotic Acid; Purine-Pyrimidine | 1974 |
Hereditary orotic aciduria: evidence for a structural gene mutation.
Topics: Azauridine; Carbon Radioisotopes; Carboxy-Lyases; Cells, Cultured; Centrifugation, Density Gradient; | 1974 |
Hereditary orotic aciduria: types I and II.
Topics: Australia; Clinical Enzyme Tests; Female; Heterozygote; Humans; Male; Orotic Acid; Pedigree; Purine- | 1973 |
The action of Mendelian genes in human diploid cell strains.
Topics: Athetosis; Biopsy; Cell Differentiation; Cell Line; Chorea; Compulsive Behavior; Culture Media; Cult | 1970 |
A screening test for urinary purines and pyrimidines and related compounds using auxotrophic mutants of Escherichia coli K12.
Topics: Adenine; Alanine; Aspartic Acid; Biological Assay; Carbamates; Child; Chromatography, Paper; Cytosin | 1970 |
Hereditary orotic aciduria: long-term therapy with uridine and a trial of uracil.
Topics: Alanine; Anemia, Macrocytic; Child; Child, Preschool; Humans; Infant; Intellectual Disability; Male; | 1969 |
Hereditary orotic aciduria with normal growth and development.
Topics: Anemia; Bone Marrow Examination; Carboxy-Lyases; Child; Culture Techniques; Female; Humans; Leukopen | 1969 |
Hereditary orotic aciduria.
Topics: Anemia, Macrocytic; Child, Preschool; Female; Growth Disorders; Humans; Infant; Intellectual Disabil | 1970 |
Dihydroorotic acid dehydrogenase activity of human diploid cell strains.
Topics: Amidohydrolases; Barbiturates; Carboxy-Lyases; Culture Techniques; Diploidy; Heterozygote; Homozygot | 1968 |