xanthine has been researched along with Lesch-Nyhan Syndrome in 22 studies
7H-xanthine : An oxopurine in which the purine ring is substituted by oxo groups at positions 2 and 6 and N-7 is protonated.
9H-xanthine : An oxopurine in which the purine ring is substituted by oxo groups at positions 2 and 6 and N-9 is protonated.
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 is a rare inborn error of purine metabolism marked by a complete deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT)." | 7.88 | Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report. ( Peppas, DS; Rosenberg, E; Shields, LBE, 2018) |
| "It is the intention of this report to identify appropriate analytical tests which allow for the monitoring of allopurinol treatment of patients with Lesch-Nyhan syndrome and the prevention of uric acid or xanthine lithiasis." | 7.72 | [Xanthinuria with xanthine lithiasis in a patient with Lesch-Nyhan syndrome under allopurinol therapy]. ( Muche, J; Rebentisch, G; Stolz, S, 2004) |
| "A rat neuroma cell line (B103 4C), deficient of hypoxanthine-guanine phosphoribosyltransferase (HGPRT), was utilized as a model tissue in search for the biochemical basis of the Lesch-Nyhan syndrome (LNS)." | 7.68 | Characterization of the alterations in purine nucleotide metabolism in hypoxanthine-guanine phosphoribosyltransferase-deficient rat neuroma cell line. ( Bromberg, Y; Brosh, S; Sidi, Y; Sperling, O; Zoref-Shani, E, 1993) |
| "We report a case of Lesch-Nyhan syndrome (LNS) with urinary xanthine calculi." | 7.68 | Extracorporeal shock wave lithotripsy and xanthine calculi in Lesch-Nyhan syndrome. ( Kusuyama, H; Morino, M; Okada, K; Shiigai, N, 1992) |
| "In order to explain features of severe hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency, the Lesch-Nyhan syndrome, a continuous supply of substrate, hypoxanthine, for the enzyme must be generated." | 7.68 | The pathogenesis of the Lesch-Nyhan syndrome: ATP use is positively related to hypoxanthine supply to hypoxanthine guanine phosphoribosyltransferase. ( Greenwood, R; Harkness, RA; McCreanor, GM, 1991) |
| "A Japanese boy with Lesch-Nyhan syndrome who passed xanthine calculi is reported." | 7.67 | Xanthine calculi in the patient with the Lesch-Nyhan syndrome associated with urinary tract infection. ( Ichikawa, Y; Koide, T; Mimaki, T; Oka, T; Sonoda, T; Takaha, M; Utsunomiya, M, 1985) |
| "Treatment with allopurinol was associated to a mean reduction of serum urate concentration of 50%, and was normalized in all patients." | 5.33 | Efficacy and safety of allopurinol in patients with the Lesch-Nyhan syndrome and partial hypoxanthine- phosphoribosyltransferase deficiency: a follow-up study of 18 Spanish patients. ( Prior, C; Puig, JG; Torres, RJ, 2006) |
| "Lesch-Nyhan syndrome is a rare inborn error of purine metabolism marked by a complete deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT)." | 3.88 | Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report. ( Peppas, DS; Rosenberg, E; Shields, LBE, 2018) |
| "It is the intention of this report to identify appropriate analytical tests which allow for the monitoring of allopurinol treatment of patients with Lesch-Nyhan syndrome and the prevention of uric acid or xanthine lithiasis." | 3.72 | [Xanthinuria with xanthine lithiasis in a patient with Lesch-Nyhan syndrome under allopurinol therapy]. ( Muche, J; Rebentisch, G; Stolz, S, 2004) |
| "A rat neuroma cell line (B103 4C), deficient of hypoxanthine-guanine phosphoribosyltransferase (HGPRT), was utilized as a model tissue in search for the biochemical basis of the Lesch-Nyhan syndrome (LNS)." | 3.68 | Characterization of the alterations in purine nucleotide metabolism in hypoxanthine-guanine phosphoribosyltransferase-deficient rat neuroma cell line. ( Bromberg, Y; Brosh, S; Sidi, Y; Sperling, O; Zoref-Shani, E, 1993) |
| "We report a case of Lesch-Nyhan syndrome (LNS) with urinary xanthine calculi." | 3.68 | Extracorporeal shock wave lithotripsy and xanthine calculi in Lesch-Nyhan syndrome. ( Kusuyama, H; Morino, M; Okada, K; Shiigai, N, 1992) |
| "In order to explain features of severe hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency, the Lesch-Nyhan syndrome, a continuous supply of substrate, hypoxanthine, for the enzyme must be generated." | 3.68 | The pathogenesis of the Lesch-Nyhan syndrome: ATP use is positively related to hypoxanthine supply to hypoxanthine guanine phosphoribosyltransferase. ( Greenwood, R; Harkness, RA; McCreanor, GM, 1991) |
| "Lesch-Nyhan syndrome is a rare X-linked recessive disorder of purine metabolism associated with a virtually complete deficiency of the enzyme hypoxanthine-guanine phosphoribosyl-transferase (HPRT)." | 3.67 | Renal oxypurine deposition in Lesch-Nyhan syndrome: sonographic evaluation. ( Parker, BR; Stevens, SK, 1989) |
| "A Japanese boy with Lesch-Nyhan syndrome who passed xanthine calculi is reported." | 3.67 | Xanthine calculi in the patient with the Lesch-Nyhan syndrome associated with urinary tract infection. ( Ichikawa, Y; Koide, T; Mimaki, T; Oka, T; Sonoda, T; Takaha, M; Utsunomiya, M, 1985) |
| "We report a case of urate overproduction owing to the Lesch-Nyhan syndrome (deficiency of hypoxanthine-guanine phosphoribosyltransferase)." | 3.67 | Xanthine-containing calculi during allopurinol therapy. ( Emmerson, BT; Gordon, RB; Keough, D; Kranen, S, 1985) |
| "Treatment with allopurinol was associated to a mean reduction of serum urate concentration of 50%, and was normalized in all patients." | 1.33 | Efficacy and safety of allopurinol in patients with the Lesch-Nyhan syndrome and partial hypoxanthine- phosphoribosyltransferase deficiency: a follow-up study of 18 Spanish patients. ( Prior, C; Puig, JG; Torres, RJ, 2006) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 6 (27.27) | 18.7374 |
| 1990's | 8 (36.36) | 18.2507 |
| 2000's | 4 (18.18) | 29.6817 |
| 2010's | 4 (18.18) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Shields, LBE | 1 |
| Peppas, DS | 1 |
| Rosenberg, E | 1 |
| Ng, N | 1 |
| Kaur, A | 1 |
| Shenoy, M | 1 |
| Jacomelli, G | 1 |
| Baldini, E | 1 |
| Mugnaini, C | 1 |
| Micheli, V | 1 |
| Bernardini, G | 1 |
| Santucci, A | 1 |
| Zennaro, C | 1 |
| Tonon, F | 1 |
| Zarattini, P | 1 |
| Clai, M | 1 |
| Corbelli, A | 1 |
| Carraro, M | 1 |
| Marchetti, M | 1 |
| Ronda, L | 1 |
| Paredi, G | 1 |
| Rastaldi, MP | 1 |
| Percudani, R | 1 |
| Bavaresco, CS | 1 |
| Zugno, AI | 1 |
| Tagliari, B | 1 |
| Wannmacher, CM | 1 |
| Wajner, M | 1 |
| Wyse, AT | 1 |
| Rebentisch, G | 1 |
| Stolz, S | 1 |
| Muche, J | 1 |
| Pais, VM | 1 |
| Lowe, G | 1 |
| Lallas, CD | 1 |
| Preminger, GM | 1 |
| Assimos, DG | 1 |
| Torres, RJ | 2 |
| Prior, C | 1 |
| Puig, JG | 3 |
| Page, T | 1 |
| Barshop, B | 1 |
| Yu, AL | 1 |
| Nyhan, WL | 1 |
| Roscioni, G | 1 |
| Farnetani, MA | 1 |
| Pagani, R | 1 |
| Pizzichini, M | 1 |
| Marinello, E | 1 |
| Porcelli, B | 1 |
| Zoref-Shani, E | 1 |
| Bromberg, Y | 1 |
| Brosh, S | 1 |
| Sidi, Y | 1 |
| Sperling, O | 1 |
| Volpe, P | 1 |
| Peyrottes, A | 1 |
| Lammle, M | 1 |
| Saquet, D | 1 |
| Choquenet, C | 1 |
| Mateos, FA | 2 |
| Buño, AS | 1 |
| Morino, M | 1 |
| Shiigai, N | 1 |
| Kusuyama, H | 1 |
| Okada, K | 1 |
| Ramos, TH | 1 |
| Jiménez, ML | 1 |
| Romera, NM | 1 |
| González, AG | 1 |
| Harkness, RA | 1 |
| McCreanor, GM | 1 |
| Greenwood, R | 1 |
| Stevens, SK | 1 |
| Parker, BR | 1 |
| López Jiménez, M | 1 |
| García Puig, J | 1 |
| Mateos Antón, F | 1 |
| Ramos Hernández, T | 1 |
| Pascual Castroviejo, I | 1 |
| Ortiz Vázquez, J | 1 |
| Kish, SJ | 1 |
| Fox, IH | 1 |
| Kapur, BM | 1 |
| Lloyd, K | 1 |
| Hornykiewicz, O | 1 |
| Hiraishi, K | 1 |
| Nakamura, S | 1 |
| Yamamoto, S | 1 |
| Kurokawa, K | 1 |
| Oka, T | 1 |
| Utsunomiya, M | 1 |
| Ichikawa, Y | 1 |
| Koide, T | 1 |
| Takaha, M | 1 |
| Mimaki, T | 1 |
| Sonoda, T | 1 |
| Kranen, S | 1 |
| Keough, D | 1 |
| Gordon, RB | 1 |
| Emmerson, BT | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| [NCT00004314] | Phase 2 | 2 participants | Interventional | 1996-02-29 | Completed | ||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
22 other studies available for xanthine and Lesch-Nyhan Syndrome
| Article | Year |
|---|---|
Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report.
Topics: Allopurinol; Antimetabolites; Child; Factor V; Humans; Kidney Calculi; Lesch-Nyhan Syndrome; Male; P | 2018 |
Recurrent kidney stones in a child with Lesch-Nyhan syndrome: Answers.
Topics: Allopurinol; Child, Preschool; Fluid Therapy; Humans; Hydrogen-Ion Concentration; Hypoxanthine Phosp | 2019 |
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 |
The renal phenotype of allopurinol-treated HPRT-deficient mouse.
Topics: Allopurinol; Animals; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome; Mice; Mice, Knoc | 2017 |
Inhibition of Na+, K+-ATPase activity in rat striatum by the metabolites accumulated in Lesch-Nyhan disease.
Topics: Analysis of Variance; Animals; Animals, Newborn; Corpus Striatum; Dose-Response Relationship, Drug; | 2004 |
[Xanthinuria with xanthine lithiasis in a patient with Lesch-Nyhan syndrome under allopurinol therapy].
Topics: Allopurinol; Child; Dose-Response Relationship, Drug; Drug Monitoring; Humans; Hypoxanthine; Kidney | 2004 |
Xanthine urolithiasis.
Topics: Adolescent; Allopurinol; Child; Enzyme Inhibitors; Female; Fluid Therapy; Humans; Hydrogen-Ion Conce | 2006 |
Efficacy and safety of allopurinol in patients with the Lesch-Nyhan syndrome and partial hypoxanthine- phosphoribosyltransferase deficiency: a follow-up study of 18 Spanish patients.
Topics: Adolescent; Adult; Allopurinol; Child; Child, Preschool; Follow-Up Studies; Humans; Hypoxanthine; Hy | 2006 |
Treatment of Lesch-Nyhan syndrome with AICAR.
Topics: Adolescent; Aminoimidazole Carboxamide; Humans; Hypoxanthine; Hypoxanthines; Infusions, Intravenous; | 1994 |
Plasma and urinary oxypurines in Lesch-Nyhan patient after allopurinol treatment.
Topics: Child; Erythrocytes; Fibroblasts; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Hypo | 1994 |
Characterization of the alterations in purine nucleotide metabolism in hypoxanthine-guanine phosphoribosyltransferase-deficient rat neuroma cell line.
Topics: Adenine; Adenine Nucleotides; Animals; Formates; Guanine; Hypoxanthine; Hypoxanthine Phosphoribosylt | 1993 |
[Xanthine urinary calculus in a patient with Lesch-Nyhan syndrome. Apropos of a case].
Topics: Allopurinol; Antimetabolites; Child; Enzyme Inhibitors; Follow-Up Studies; Humans; Kidney Calculi; L | 1997 |
Purine metabolism in female heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency.
Topics: Adolescent; Adult; Aged; Case-Control Studies; Female; Heterozygote; Humans; Hypoxanthine; Hypoxanth | 1998 |
Extracorporeal shock wave lithotripsy and xanthine calculi in Lesch-Nyhan syndrome.
Topics: Allopurinol; Humans; Infant; Kidney Calculi; Lesch-Nyhan Syndrome; Lithotripsy; Male; Xanthine; Xant | 1992 |
Prenatal diagnosis of Lesch-Nyhan syndrome by purine analysis of amniotic fluid and cordocentesis.
Topics: Adult; Amniotic Fluid; Female; Fetal Blood; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransfe | 1991 |
The pathogenesis of the Lesch-Nyhan syndrome: ATP use is positively related to hypoxanthine supply to hypoxanthine guanine phosphoribosyltransferase.
Topics: Adenosine Triphosphate; Adult; Aging; Body Mass Index; Creatinine; Exercise; Female; Humans; Hypoxan | 1991 |
Renal oxypurine deposition in Lesch-Nyhan syndrome: sonographic evaluation.
Topics: Allopurinol; Child; Humans; Hypoxanthine; Hypoxanthines; Kidney Calculi; Lesch-Nyhan Syndrome; Male; | 1989 |
[Purine transport through the blood-brain barrier in hypoxanthine phosphoribosyltransferase deficiency].
Topics: Adolescent; Adult; Allopurinol; Blood-Brain Barrier; Child; Child, Preschool; Humans; Hypoxanthine; | 1989 |
Brain benzodiazepine receptor binding and purine concentration in Lesch-Nyhan syndrome.
Topics: Adolescent; Adult; Cerebral Cortex; gamma-Aminobutyric Acid; Humans; Hypoxanthine; Hypoxanthines; In | 1985 |
Prevention of xanthine stone formation by augmented dose of allopurinol in the Lesch-Nyhan syndrome.
Topics: Adolescent; Allopurinol; Calculi; Humans; Lesch-Nyhan Syndrome; Male; Xanthine; Xanthines | 1987 |
Xanthine calculi in the patient with the Lesch-Nyhan syndrome associated with urinary tract infection.
Topics: Allopurinol; Child; Combined Modality Therapy; Enterococcus faecalis; Humans; Kidney Calculi; Lesch- | 1985 |
Xanthine-containing calculi during allopurinol therapy.
Topics: Adult; Allopurinol; Humans; Hypoxanthine; Hypoxanthines; Kidney Calculi; Lesch-Nyhan Syndrome; Male; | 1985 |