orotic acid has been researched along with Inborn Errors of Metabolism in 45 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 |
|---|---|---|
| " Crystalluria in a three-month-old male infant with a history of intermittent vomiting since birth and incipient coma led to the discovery of orotic aciduria." | 3.65 | Partial ornithine carbamyl transferase deficiency: an inborn error of the urea cycle presenting as orotic aciduria in a male infant. ( Mackenzie, S; MacLeod, P; Scriver, CR, 1972) |
| "The results show that liver tissue from OTC deficiency patients exhibited an increased ratio of uridine nucleotides to adenosine nucleotides, while in CPS-I deficiency patients, no such increase was noted." | 1.29 | Nucleotide pool imbalances in the livers of patients with urea cycle disorders associated with increased levels of orotic aciduria. ( Lambert, M; Qureshi, IA; Rajalakshmi, S; Rao, PM; Sarma, DS; Vasudevan, S, 1995) |
| "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 | 37 (82.22) | 18.7374 |
| 1990's | 6 (13.33) | 18.2507 |
| 2000's | 2 (4.44) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Salerno, C | 1 |
| Crifò, C | 1 |
| BECROFT, DM | 1 |
| PHILLIPS, LI | 1 |
| Hirschhorn, R | 1 |
| Glader, BE | 1 |
| Sullivan, DW | 1 |
| Girot, R | 1 |
| Durandy, A | 1 |
| Perignon, JL | 1 |
| Griscelli, C | 1 |
| Dhareshwar, SS | 1 |
| Ambani, LM | 1 |
| Suchak, RH | 1 |
| Danthi, V | 1 |
| Rajantie, J | 1 |
| Bachmann, C | 1 |
| Colombo, JP | 1 |
| Seiler, N | 1 |
| Grauffel, C | 1 |
| Daune-Anglard, G | 1 |
| Sarhan, S | 1 |
| Knödgen, B | 1 |
| Vasudevan, S | 1 |
| Qureshi, IA | 1 |
| Lambert, M | 1 |
| Rao, PM | 1 |
| Rajalakshmi, S | 1 |
| Sarma, DS | 1 |
| Ohba, S | 2 |
| Kidouchi, K | 3 |
| Toyama, J | 1 |
| Oda, T | 1 |
| Tsuboi, T | 1 |
| Ichiki, T | 1 |
| Sobajima, H | 1 |
| Sugiyama, N | 1 |
| Morishita, H | 2 |
| Købayashi, M | 1 |
| Morsy, MA | 1 |
| Zhao, JZ | 1 |
| Ngo, TT | 1 |
| Warman, AW | 1 |
| O'Brien, WE | 1 |
| Graham, FL | 1 |
| Caskey, CT | 2 |
| Asai, M | 1 |
| Sumi, S | 1 |
| Imaeda, H | 1 |
| Togari, H | 1 |
| Wada, Y | 3 |
| Brusilow, SW | 1 |
| Valle, DL | 1 |
| Batshaw, M | 1 |
| Watts, RW | 1 |
| Cooper, BA | 1 |
| Smith, LH | 1 |
| Gilmour, L | 1 |
| Biserte, G | 1 |
| Burlina, AB | 1 |
| Ferrari, V | 1 |
| Dionisi-Vici, C | 1 |
| Bordugo, A | 1 |
| Zacchello, F | 1 |
| Tuchman, M | 1 |
| Katoh, T | 1 |
| Kibe, T | 1 |
| Kobayashi, M | 1 |
| Yazaki, M | 1 |
| Okajima, K | 1 |
| Suchi, M | 1 |
| Hjelm, M | 1 |
| de Silva, LV | 1 |
| Seakins, JW | 1 |
| Oberholzer, VG | 1 |
| Rolles, CJ | 1 |
| Batshaw, ML | 1 |
| Holtzman, NA | 1 |
| Murphey, WH | 1 |
| Patchen, L | 1 |
| Guthrie, R | 1 |
| Zakim, D | 1 |
| Buist, NR | 1 |
| Jhaveri, BM | 1 |
| Kelley, WN | 1 |
| Fox, IH | 1 |
| Beardmore, TD | 1 |
| Meade, JC | 1 |
| Szám, I | 1 |
| O'Sullivan, WJ | 2 |
| Arashima, S | 2 |
| Matsuda, I | 2 |
| Goldstein, AS | 1 |
| Hoogenraad, NJ | 1 |
| Johnson, JD | 1 |
| Fukanaga, K | 1 |
| Swierczewski, E | 1 |
| Cann, HM | 1 |
| Sunshine, P | 1 |
| Craig, JW | 1 |
| Krooth, RS | 2 |
| Sell, EK | 1 |
| Arashima, I | 1 |
| MacLeod, P | 1 |
| Mackenzie, S | 1 |
| Scriver, CR | 1 |
| Krukow, N | 1 |
| Brodersen, R | 1 |
| Nambu, H | 1 |
| Takekoshi, Y | 1 |
| Anakura, M | 1 |
| Frick, PG | 1 |
| Rogers, LE | 2 |
| Warford, LR | 1 |
| Patterson, RB | 1 |
| Porter, FS | 2 |
| Tubergen, DG | 1 |
| Heyn, RM | 1 |
| Pan, YL | 1 |
| Wuu, KD | 1 |
| Fox, RM | 1 |
| Firkin, BG | 1 |
13 reviews available for orotic acid and Inborn Errors of Metabolism
| Article | Year |
|---|---|
Diagnostic value of urinary orotic acid levels: applicable separation methods.
Topics: Chromatography; Electrophoresis, Capillary; Humans; Metabolism, Inborn Errors; Orotic Acid | 2002 |
The red blood cell as a biopsy tool.
Topics: Biopsy; Carbohydrate Metabolism, Inborn Errors; Erythrocytes; Galactosemias; Gout; Humans; Immunolog | 1981 |
Metabolic causes of renal stone formation.
Topics: Adenine Phosphoribosyltransferase; Cystinuria; Glycogen Storage Disease Type I; Humans; Hypoxanthine | 1977 |
Inherited biochemical defects affecting the kidney.
Topics: Acidosis, Renal Tubular; Adult; Child; Chromosome Aberrations; Chromosome Disorders; Cystinosis; Cys | 1976 |
Megaloblastic anaemia and disorders affecting utilisation of vitamin B12 and folate in childhood.
Topics: Adolescent; Adult; Anemia, Hemolytic; Anemia, Macrocytic; Anemia, Megaloblastic; Anemia, Pernicious; | 1976 |
[Natural history of molecular pathology].
Topics: Amino Acid Sequence; Animals; Base Sequence; Chromosome Aberrations; Chromosome Deletion; Crossing O | 1975 |
Dietary treatment of inborn errors of metabolism.
Topics: Ammonia; Carbohydrate Metabolism, Inborn Errors; Diet Therapy; Female; Fructose; Galactosemias; Glyc | 1970 |
Biochemical foundations of preventive medicine: the study of abnormal enzymes.
Topics: Amino Acid Metabolism, Inborn Errors; Cystathionine; Cystathionine gamma-Lyase; Erythrocytes; Genes, | 1974 |
A guide to screening newborn infants for inborn errors of metabolism.
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Angioedema; Bacteriological Techniques; Chromatog | 1973 |
[Hyperammoniemia and its treatment].
Topics: Ammonia; Arginine; Aspartic Acid; Humans; Ketoglutaric Acids; Liver; Malates; Metabolism, Inborn Err | 1973 |
Orotic acid.
Topics: Allopurinol; Anemia, Pernicious; Animals; Azauridine; Carboxy-Lyases; Fatty Liver; Female; Humans; I | 1973 |
Present knowledge of nutrition in inborn errors of metabolism.
Topics: Diarrhea; Diet Therapy; Fermentation; Galactosemias; Hartnup Disease; Humans; Hyperlipidemias; Metab | 1968 |
Orotic aciduria.
Topics: Anemia, Macrocytic; Animals; Carboxy-Lyases; Growth; Growth Disorders; Humans; Infant; Mass Screenin | 1969 |
32 other studies available for orotic acid and Inborn Errors of Metabolism
| Article | Year |
|---|---|
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 |
Metabolic defects and immunodeficiency disorders.
Topics: Adenosine Deaminase; Antibody Formation; Child; Humans; Immunity, Cellular; Immunologic Deficiency S | 1983 |
Hereditary orotic aciduria: a defect of pyrimidine metabolism with cellular immunodeficiency.
Topics: Antibody Formation; B-Lymphocytes; Child; Child, Preschool; Female; Humans; Immunity, Cellular; Immu | 1983 |
Inborn errors of metabolism in acutely sick children.
Topics: Acids; Amino Acids; Ammonia; Carbohydrates; Child; Child, Preschool; Chromatography, Thin Layer; Fem | 1982 |
[Urinary orotic acid excretion - a sensitive indicator of ammonia detoxication].
Topics: Ammonia; Humans; Metabolism, Inborn Errors; Orotic Acid | 1981 |
Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child; Child, Preschool; Citrulline; Female | 1980 |
Decreased hyperammonaemia and orotic aciduria due to inactivation of ornithine aminotransferase in mice with a hereditary abnormal ornithine carbamoyltransferase.
Topics: Amino Acids; Ammonia; Animals; Behavior, Animal; Female; Male; Metabolism, Inborn Errors; Mice; Mice | 1994 |
Nucleotide pool imbalances in the livers of patients with urea cycle disorders associated with increased levels of orotic aciduria.
Topics: Adenine Nucleotides; Carbamoyl-Phosphate Synthase (Ammonia); Humans; Liver; Metabolism, Inborn Error | 1995 |
Quantitative analysis of amniotic fluid pyrimidines for the prenatal diagnosis of hereditary orotic aciduria.
Topics: Amniotic Fluid; Chromatography, High Pressure Liquid; Female; Humans; Infant, Newborn; Metabolism, I | 1993 |
Patient selection may affect gene therapy success. Dominant negative effects observed for ornithine transcarbamylase in mouse and human hepatocytes.
Topics: Adenoviridae; Animals; Disease Models, Animal; Gene Expression; Genetic Therapy; Genetic Vectors; Hu | 1996 |
Urinary pyrimidine analysis in healthy newborns, infants, children, adults and patients with congenital metabolic diseases.
Topics: Adolescent; Adult; Child; Child, Preschool; Chromatography, Liquid; Humans; Infant; Infant, Newborn; | 2000 |
New pathways of nitrogen excretion in inborn errors of urea synthesis.
Topics: Arginine; Argininosuccinate Synthase; Argininosuccinic Aciduria; Citrulline; Dietary Proteins; Hippu | 1979 |
Determination of urinary carbamylaspartate and dihydro-orotate in normal subjects and in patients with hereditary orotic aciduria.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Aspartic Acid; Child; Child, Preschool; Female; Humans; | 1975 |
Allopurinol challenge test in children.
Topics: Adolescent; Aging; Allopurinol; Child; Child, Preschool; Citrulline; Female; Humans; Infant; Male; M | 1992 |
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 |
Increase of protein synthesis by uridine supplement in lectin-stimulated peripheral blood lymphocytes and EB virus-transformed B cell line of hereditary orotic aciduria type I.
Topics: Antigens, Surface; Cell Transformation, Viral; Female; Herpesvirus 4, Human; Humans; Infant; Lectins | 1987 |
Evidence of inherited urea cycle defect in a case of fatal valproate toxicity.
Topics: Adult; Ammonia; Child; Child, Preschool; Female; Humans; Male; Metabolism, Inborn Errors; Middle Age | 1986 |
The diagnosis of ornithine transcarbamylase deficiency.
Topics: Animals; Carbamyl Phosphate; Citrulline; Coma; Female; Humans; Infant; Infant, Newborn; Intellectual | 1985 |
Screening tests for argininosuccinic aciduria, orotic aciduria, and other inherited enzyme deficiencies using dried blood specimens.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Bacillus subtilis; Biological Assay; Carboxy-Lyases; | 1972 |
Allopurinol and oxipurinol: alteration of purine and pyrimidine metabolism in cell culture.
Topics: Alcohols; Allopurinol; Azaserine; Carbon Isotopes; Cell Line; Fibroblasts; Formates; Glycine; Guanin | 1971 |
A case of carbamyl phosphate synthetase deficiency.
Topics: Amino Acids; Carbamates; DNA; Female; Glucose Tolerance Test; Humans; Infant; Liver; Metabolism, Inb | 1972 |
Metabolic and genetic studies of a family with ornithine transcarbamylase deficiency.
Topics: Ammonia; Ammonium Chloride; Brain; Citrates; Dietary Proteins; Estradiol; Glucose; Heterozygote; Hum | 1974 |
The action of Mendelian genes in human diploid cell strains.
Topics: Athetosis; Biopsy; Cell Differentiation; Cell Line; Chorea; Compulsive Behavior; Culture Media; Cult | 1970 |
[Hyperammonemia--congenital abnormality of the urea cycle].
Topics: Amino Acids; Ammonia; Animals; Arginase; Carbamates; DNA; Female; Humans; Infant; Kinetics; Ligases; | 1972 |
Partial ornithine carbamyl transferase deficiency: an inborn error of the urea cycle presenting as orotic aciduria in a male infant.
Topics: Ammonia; Chromatography, Gas; Coma; Humans; Infant; Infusions, Parenteral; Liver; Male; Metabolism, | 1972 |
Toxic effects in the Gunn rat of combined treatment with bilirubin and orotic acid.
Topics: Albumins; Animals; Bilirubin; Body Temperature; Carbon Isotopes; Depression, Chemical; Drug Interact | 1972 |
Hyperammonemia due to a mutant enzyme of ornithine transcarbamylase.
Topics: Amino Acids; Ammonia; Animals; Autopsy; Clinical Enzyme Tests; Culture Techniques; Female; Humans; I | 1971 |
[Familial forms of megaloblastic anemias].
Topics: Anemia, Macrocytic; Folic Acid Deficiency; Humans; Intellectual Disability; Intestinal Absorption; I | 1970 |
Hereditary orotic aciduria. I. A new case with family studies.
Topics: Adult; Anemia, Macrocytic; Carboxy-Lyases; Chromosome Aberrations; Chromosome Disorders; Clinical En | 1968 |
Hereditary orotic aciduria. II. A urinary screening test.
Topics: Adult; Heterozygote; Homozygote; Humans; Metabolism, Inborn Errors; Methods; Orotic Acid; Urine | 1968 |
Orotic aciduria in a girl with normal growth and development.
Topics: Anemia, Macrocytic; Child; Erythrocytes; Female; Hematuria; Humans; Metabolism, Inborn Errors; Oroti | 1969 |
Orotic aciduria. Differing enzyme patterns.
Topics: Abnormalities, Multiple; Anemia, Macrocytic; Carboxy-Lyases; Erythrocytes; Humans; Infant; Male; Met | 1969 |