orotic acid has been researched along with Intellectual Disability 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.
Intellectual Disability: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
| 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 Intellectual Disability
| 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 Intellectual Disability
| 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 |