orotic acid has been researched along with Deficiency, Mental in 18 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 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) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 14 (77.78) | 18.7374 |
| 1990's | 2 (11.11) | 18.2507 |
| 2000's | 1 (5.56) | 29.6817 |
| 2010's | 1 (5.56) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| 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 |
| Poplawski, NK | 1 |
| Harrison, JR | 1 |
| Norton, W | 1 |
| Wiltshire, E | 1 |
| Fletcher, JM | 1 |
| Haggard, ME | 1 |
| Lockhart, LH | 1 |
| Imaeda, M | 1 |
| Sumi, S | 1 |
| Imaeda, H | 1 |
| Suchi, M | 1 |
| Kidouchi, K | 1 |
| Togari, H | 1 |
| Wada, Y | 3 |
| 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 |
| Tuchman, M | 1 |
| Holzknecht, RA | 1 |
| Batshaw, ML | 1 |
| Beardmore, TD | 1 |
| Fox, IH | 2 |
| Kelley, WN | 2 |
| Wyngaarden, JB | 1 |
| Nishimura, Y | 1 |
| Tanabu, M | 1 |
| Yoshimura, Y | 1 |
| Iinuma, K | 1 |
| Krooth, RS | 1 |
| Sell, EK | 1 |
| Becroft, DM | 1 |
| Phillips, LI | 1 |
| Simmonds, A | 1 |
| Lis, EW | 1 |
| Lis, AW | 1 |
| DeHackbeil, KF | 1 |
| Dergachev, VV | 1 |
| Pivovarova, GN | 1 |
| Khamaganova, TG | 1 |
| Shaginian, EV | 1 |
| Krasnushkina, NA | 1 |
| Frick, PG | 1 |
| Soutter, GB | 1 |
| Yu, J | 1 |
| Lovric, A | 1 |
| Stapleton, T | 1 |
1 review available for orotic acid and Deficiency, Mental
| Article | Year |
|---|---|
[Treatment of congenital purine-pyrimidine metabolism anomalies].
Topics: Athetosis; Chorea; Compulsive Behavior; Gout; Humans; Intellectual Disability; Orotic Acid; Purine-P | 1971 |
17 other studies available for orotic acid and Deficiency, Mental
| Article | Year |
|---|---|
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 |
Urine amino and organic acids analysis in developmental delay or intellectual disability.
Topics: Amino Acids; Child; Child, Preschool; Chromatography, Ion Exchange; Developmental Disabilities; Fema | 2002 |
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 |
Hereditary orotic aciduria heterozygotes accompanied with neurological symptoms.
Topics: Cerebral Palsy; Child, Preschool; Humans; Intellectual Disability; Male; Orotate Phosphoribosyltrans | 1998 |
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 |
Heterogeneity of patients with late onset ornithine transcarbamylase deficiency.
Topics: Adolescent; Adult; Age Factors; Ammonia; Child; Child, Preschool; Female; Genetic Variation; Glutami | 1991 |
The diagnosis of ornithine transcarbamylase deficiency.
Topics: Animals; Carbamyl Phosphate; Citrulline; Coma; Female; Humans; Infant; Infant, Newborn; Intellectual | 1985 |
Effect of allopurinol on pyrimidine metabolism in the Lesch-Nyhan syndrome.
Topics: Allopurinol; Athetosis; Child; Chorea; Compulsive Behavior; Humans; Intellectual Disability; Orotic | 1970 |
Regulation of purine biosynthesis in cultured human cells. I. Effects of orotic acid.
Topics: Adolescent; Adult; Athetosis; Cell Line; Chorea; Compulsive Behavior; Culture Techniques; Fibroblast | 1970 |
Hypouricemic, mentally retarded infant with a defect of 5-phosphoribosyl-1-pyrophosphate synthetase of erythrocytes.
Topics: Adenosine Triphosphate; Amides; Bone Marrow; Bone Marrow Cells; Erythrocytes; Glucosephosphate Dehyd | 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 |
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 |
Ultraviolet-absorbing components of urine from mentally retarded children. 3.
Topics: Adolescent; Adult; Ammonia; Autistic Disorder; Central Nervous System Diseases; Child; Child, Presch | 1970 |
[Treatment of children with memory disorders with orotic and folic acids and vitamin B12].
Topics: Child; Electroencephalography; Folic Acid; Galvanic Skin Response; Humans; Intellectual Disability; | 1970 |
[Familial forms of megaloblastic anemias].
Topics: Anemia, Macrocytic; Folic Acid Deficiency; Humans; Intellectual Disability; Intestinal Absorption; I | 1970 |
Hereditary orotic aciduria.
Topics: Anemia, Macrocytic; Child, Preschool; Female; Growth Disorders; Humans; Infant; Intellectual Disabil | 1970 |