purine has been researched along with Lesch-Nyhan Syndrome in 18 studies
1H-purine : The 1H-tautomer of purine.
3H-purine : The 3H-tautomer of purine.
9H-purine : The 9H-tautomer of purine.
7H-purine : The 7H-tautomer of purine.
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)
| Excerpt | Relevance | Reference |
|---|---|---|
| "Lesch-Nyhan syndrome involves disorders of both purine and dopamine metabolism." | 3.67 | Assessment of purine-dopamine interactions in 6-hydroxydopamine-lesioned rats: evidence for pre- and postsynaptic influences by adenosine. ( Breese, GR; Criswell, H; Mueller, RA, 1988) |
| "The purine hypoxanthine plays important role in regulating oocyte maturation and early embryonic development." | 1.56 | Hypoxanthine phosphoribosyltransferase (HPRT)-deficiency is associated with impaired fertility in the female rat. ( Binas, B; Burdon, T; Clinton, M; Meek, S; Sturmey, R; Sutherland, L; Wei, J, 2020) |
| "Allopurinol treatment was associated with a mean 74% reduction in urinary uric acid-to-creatinine ratio." | 1.34 | Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency. ( Prior, C; Puig, JG; Torres, RJ, 2007) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 5 (27.78) | 18.7374 |
| 1990's | 1 (5.56) | 18.2507 |
| 2000's | 5 (27.78) | 29.6817 |
| 2010's | 4 (22.22) | 24.3611 |
| 2020's | 3 (16.67) | 2.80 |
| Authors | Studies |
|---|---|
| Vogel, M | 1 |
| Moehrle, B | 1 |
| Brown, A | 1 |
| Eiwen, K | 1 |
| Sakk, V | 1 |
| Geiger, H | 1 |
| Nguyen, KV | 1 |
| Naviaux, RK | 1 |
| Nyhan, WL | 1 |
| Meek, S | 1 |
| Sutherland, L | 1 |
| Wei, J | 1 |
| Sturmey, R | 1 |
| Binas, B | 1 |
| Clinton, M | 1 |
| Burdon, T | 1 |
| Sutcliffe, DJ | 1 |
| Dinasarapu, AR | 1 |
| Visser, JE | 1 |
| Hoed, JD | 1 |
| Seifar, F | 1 |
| Joshi, P | 1 |
| Ceballos-Picot, I | 1 |
| Sardar, T | 1 |
| Hess, EJ | 1 |
| Sun, YV | 1 |
| Wen, Z | 1 |
| Zwick, ME | 1 |
| Jinnah, HA | 1 |
| Jacomelli, G | 1 |
| Baldini, E | 1 |
| Mugnaini, C | 1 |
| Micheli, V | 1 |
| Bernardini, G | 1 |
| Santucci, A | 1 |
| Chen, BC | 1 |
| Balasubramaniam, S | 1 |
| McGown, IN | 1 |
| O'Neill, JP | 1 |
| Chng, GS | 1 |
| Keng, WT | 1 |
| Ngu, LH | 1 |
| Duley, JA | 1 |
| Torres, RJ | 2 |
| Puig, JG | 2 |
| Sebesta, I | 1 |
| Stiburková, B | 1 |
| Dvorakova, L | 1 |
| Hrebicek, M | 1 |
| Minks, J | 1 |
| Stolnaja, L | 1 |
| Vernerova, Z | 1 |
| Rychlik, I | 1 |
| Yamada, Y | 1 |
| Yamada, K | 1 |
| Nomura, N | 1 |
| Yamano, A | 1 |
| Kimura, R | 1 |
| Tomida, S | 1 |
| Naiki, M | 1 |
| Wakamatsu, N | 1 |
| Yamaoka, T | 1 |
| Morisaki, T | 1 |
| Prior, C | 1 |
| Gutensohn, W | 1 |
| MacDermot, KD | 1 |
| Allsop, J | 1 |
| Watts, RW | 1 |
| Curto, R | 1 |
| Voit, EO | 1 |
| Cascante, M | 1 |
| Krug, EC | 1 |
| Marr, JJ | 1 |
| Berens, RL | 1 |
| Wolff, JA | 1 |
| Friedmann, T | 1 |
| Criswell, H | 1 |
| Mueller, RA | 1 |
| Breese, GR | 1 |
3 reviews available for purine and Lesch-Nyhan Syndrome
| Article | Year |
|---|---|
[Biosynthetic pathways for purine nucleotides and uric acid].
Topics: Adenine Phosphoribosyltransferase; Adenosine Triphosphate; Allosteric Regulation; Amidophosphoribosy | 2003 |
[Animal models for abnormal purine metabolism].
Topics: Adenine Phosphoribosyltransferase; Adenosine Deaminase; AMP Deaminase; Animals; Disease Models, Anim | 2003 |
Approaches to gene therapy in disorders of purine metabolism.
Topics: Adenosine Deaminase; Animals; Bone Marrow Transplantation; DNA, Viral; Genetic Therapy; Humans; Hypo | 1988 |
15 other studies available for purine and Lesch-Nyhan Syndrome
| Article | Year |
|---|---|
HPRT and Purine Salvaging Are Critical for Hematopoietic Stem Cell Function.
Topics: Animals; Cell Cycle; Cell Differentiation; Cell Proliferation; Cells, Cultured; Hematopoietic Stem C | 2019 |
Lesch-Nyhan disease: I. Construction of expression vectors for hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme and amyloid precursor protein (APP).
Topics: Amyloid beta-Protein Precursor; Epigenomics; Gene Expression Regulation; HEK293 Cells; Humans; Hypox | 2020 |
Hypoxanthine phosphoribosyltransferase (HPRT)-deficiency is associated with impaired fertility in the female rat.
Topics: Animals; Embryonic Development; Female; Fertility; Fetal Viability; Hypoxanthine; Hypoxanthine Phosp | 2020 |
Induced pluripotent stem cells from subjects with Lesch-Nyhan disease.
Topics: Adolescent; Adult; Cell Differentiation; Child; Gene Expression Profiling; Humans; Hypoxanthine Phos | 2021 |
Inhibiting PNP for the therapy of hyperuricemia in Lesch-Nyhan disease: Preliminary in vitro studies with analogues of immucillin-G.
Topics: Allopurinol; Cells, Cultured; Enzyme Inhibitors; Humans; Hyperuricemia; Hypoxanthine; Hypoxanthine P | 2019 |
Treatment of Lesch-Nyhan disease with S-adenosylmethionine: experience with five young Malaysians, including a girl.
Topics: Adolescent; Aggression; Child; Child, Preschool; Dystonia; Female; Humans; Infant; Lesch-Nyhan Syndr | 2014 |
The diagnosis of HPRT deficiency in the 21st century.
Topics: Adolescent; Allopurinol; Child, Preschool; Humans; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyh | 2008 |
Unusual presentation of Kelley-Seegmiller syndrome.
Topics: Adult; Alleles; Female; Heterozygote; Humans; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Sy | 2008 |
Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.
Topics: DNA Mutational Analysis; Genetic Diseases, X-Linked; Genetic Predisposition to Disease; Humans; Hype | 2010 |
Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.
Topics: Adolescent; Adult; Allopurinol; Antimetabolites; Child; Child, Preschool; Dose-Response Relationship | 2007 |
Inherited disorders of purine metabolism--underlying molecular mechanisms.
Topics: Adenine Phosphoribosyltransferase; Adenosine Deaminase; Gout; Humans; Hypoxanthine Phosphoribosyltra | 1984 |
The rate of purine synthesis de nova in blood mononuclear cells in vitro from patients with familial hyperuricaemic nephropathy.
Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Erythrocytes; Female; Gout; Humans; Kidney Disease | 1984 |
Analysis of abnormalities in purine metabolism leading to gout and to neurological dysfunctions in man.
Topics: Adenylosuccinate Lyase; Aminoimidazole Carboxamide; AMP Deaminase; Gout; Humans; Hypoxanthine Phosph | 1998 |
Purine metabolism in Toxoplasma gondii.
Topics: Animals; Cell Line; Humans; Inosine; Kinetics; Lesch-Nyhan Syndrome; Purine Nucleotides; Purines; To | 1989 |
Assessment of purine-dopamine interactions in 6-hydroxydopamine-lesioned rats: evidence for pre- and postsynaptic influences by adenosine.
Topics: Adenosine; Animals; Female; Hydroxydopamines; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Sy | 1988 |