orotic acid has been researched along with Lesch-Nyhan Syndrome in 16 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.
Lesch-Nyhan Syndrome: An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 16 (100.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Boss, GR | 1 |
| Seegmiller, JE | 3 |
| Glader, BE | 1 |
| Sullivan, DW | 1 |
| Campisi, J | 1 |
| Hafner, J | 1 |
| Boorstein, R | 1 |
| Pardee, AB | 1 |
| Martínez-Ramón, A | 1 |
| Grisolía, S | 1 |
| Nuki, G | 1 |
| Astrin, K | 1 |
| Brenton, D | 1 |
| Cruikshank, M | 1 |
| Lever, J | 1 |
| Caskey, CT | 1 |
| Fox, IH | 2 |
| Biserte, G | 1 |
| Mellman, WJ | 1 |
| Kelley, WN | 4 |
| Beardmore, TD | 3 |
| Meade, JC | 1 |
| Becker, MA | 1 |
| Delbarre, F | 1 |
| Auscher, C | 1 |
| de Gery, A | 1 |
| Fox, RM | 1 |
| Wood, MH | 1 |
| O'Sullivan, WJ | 1 |
8 reviews available for orotic acid and Lesch-Nyhan Syndrome
| Article | Year |
|---|---|
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 |
Inherited biochemical defects affecting the kidney.
Topics: Acidosis, Renal Tubular; Adult; Child; Chromosome Aberrations; Chromosome Disorders; Cystinosis; Cys | 1976 |
Inborn errors of purine and pyrimidine metabolism.
Topics: Animals; Female; Heterozygote; Humans; Lesch-Nyhan Syndrome; Orotic Acid; Pregnancy; Prenatal Diagno | 1976 |
[Natural history of molecular pathology].
Topics: Amino Acid Sequence; Animals; Base Sequence; Chromosome Aberrations; Chromosome Deletion; Crossing O | 1975 |
A biochemical genetic view of human cell culture.
Topics: Amino Acids; Biological Transport; Carbohydrate Metabolism; Cell Division; Cells, Cultured; Clone Ce | 1971 |
Phosphoribosylpyrophosphate in man: biochemical and clinical significance.
Topics: Adenine; Adrenocorticotropic Hormone; Allopurinol; Animals; Glycogen; Gout; Humans; Lesch-Nyhan Synd | 1971 |
Genetic aspects of gout.
Topics: Adenine; Allopurinol; Carbon Radioisotopes; Erythrocytes; Fibroblasts; Glucosephosphate Dehydrogenas | 1974 |
8 other studies available for orotic acid and Lesch-Nyhan Syndrome
| Article | Year |
|---|---|
Hereditary orotic aciduria, Lesch-Nyhan syndrome, and xeroderma pigmentosum probed by herpes simplex virus: 125I-iododeoxycytidine incorporation as an assay for viral growth.
Topics: Adenosine; Bromodeoxycytidine; Cells, Cultured; Deoxycytidine; DNA, Viral; Herpes Simplex; Humans; L | 1983 |
Increased incorporation of aspartate and decreased incorporation of orotate in fibroblasts from Lesch-Nyhan patients as revealed by autoradiography.
Topics: Adolescent; Aspartic Acid; Autoradiography; Cell Nucleus; Cells, Cultured; Child; Child, Preschool; | 1980 |
Purine and pyrimidine nucleotides in some mutant human lymphoblasts.
Topics: Adenine Nucleotides; Bicarbonates; Guanine Nucleotides; Humans; Hypoxanthine Phosphoribosyltransfera | 1977 |
Increased activity of two enzymes of pyrimidine biosynthesis de novo in erythrocytes from patients with the Lesch-Nyhan syndrome.
Topics: Adenine; Adolescent; Allopurinol; Carbon Isotopes; Carboxy-Lyases; Child; Child, Preschool; Diphosph | 1973 |
[Molecular bases of the treatment of Lesch-Nyhan syndrome, related syndromes and common gout].
Topics: Adenine Nucleotides; Allopurinol; Feedback; Gout; Guanosine; Humans; Hypoxanthines; Lesch-Nyhan Synd | 1972 |
Effects of allopurinol and oxipurinol on pyrimidine biosynthesis in man.
Topics: Allopurinol; Carbon Dioxide; Carbon Radioisotopes; Carboxy-Lyases; Child; DNA; Erythrocytes; Gout; H | 1974 |
Mechanism of allopurinol-mediated inhibition of pyrimidine biosynthesis.
Topics: Allopurinol; Carbon Dioxide; Carbon Isotopes; Carboxy-Lyases; Chromatography, Paper; Depression, Che | 1971 |
Studies on the coordinate activity and liability of orotidylate phosphoribosyltransferase and decarboxylase in human erythrocytes, and the effects of allopurinol administration.
Topics: Adenine; Allopurinol; Carbon Isotopes; Carboxy-Lyases; Centrifugation, Density Gradient; Depression, | 1971 |