glycine has been researched along with Lesch-Nyhan Syndrome in 21 studies
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 |
|---|---|---|
| " We have examined guanidinoacetate and creatine levels in urine from 11 HPRT deficient patients (9 with Lesch-Nyhan syndrome and 2 with partial deficiency)." | 3.74 | Urinary guanidinoacetate and creatine levels in patients with HPRT deficiency. ( Merinero, B; Puig, JG; Torres, RJ; Verdú, A, 2008) |
| "The Lesch-Nyhan syndrome is an X-linked disorder caused by a virtually complete absence of the key enzyme of purine recycling, hypoxanthine-guanine phosphoribosyltransferase (HPRT)." | 3.70 | Adenoviruses encoding HPRT correct biochemical abnormalities of HPRT-deficient cells and allow their survival in negative selection medium. ( Bain, D; Castro, MG; Fairbanks, LD; Larregina, AT; Löwenstein, PR; Morelli, AE; Simmonds, HA; Southgate, TD, 1999) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 16 (76.19) | 18.7374 |
| 1990's | 3 (14.29) | 18.2507 |
| 2000's | 1 (4.76) | 29.6817 |
| 2010's | 1 (4.76) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Nguyen, KV | 1 |
| Naviaux, RK | 1 |
| Nyhan, WL | 2 |
| Verdú, A | 1 |
| Torres, RJ | 1 |
| Merinero, B | 1 |
| Puig, JG | 2 |
| Emmerson, BT | 3 |
| Wyngaarden, JB | 1 |
| Rassin, DK | 1 |
| Lloyd, KG | 1 |
| Kelley, WN | 1 |
| Fox, I | 1 |
| Bouwens-Rombouts, AG | 1 |
| van den Boogaard, MJ | 1 |
| Mateos, FA | 1 |
| Hennekam, RC | 1 |
| Tilanus, MG | 1 |
| Gathof, BS | 1 |
| Rocchigiani, M | 1 |
| Micheli, V | 1 |
| Gaigl, Z | 1 |
| Gresser, U | 1 |
| Southgate, TD | 1 |
| Bain, D | 1 |
| Fairbanks, LD | 1 |
| Morelli, AE | 1 |
| Larregina, AT | 1 |
| Simmonds, HA | 1 |
| Castro, MG | 1 |
| Löwenstein, PR | 1 |
| Mertz, DP | 1 |
| Taylor, MW | 1 |
| Tokito, MK | 1 |
| Gupta, KC | 1 |
| Pipkorn, J | 1 |
| Reem, GH | 1 |
| Gordon, RB | 2 |
| Johnson, LA | 2 |
| Sweetman, L | 1 |
| Borden, M | 1 |
| Kulovich, S | 1 |
| Kaufman, I | 1 |
| Krízek, V | 1 |
| Omenn, GS | 1 |
| Giliberti, P | 1 |
| Pignero, A | 1 |
| Tancredi, F | 1 |
| Samson, D | 1 |
| Halliday, D | 1 |
| Nicholson, DC | 1 |
| Chanarin, I | 1 |
| Boyle, JA | 1 |
| Raivio, KO | 1 |
| Becker, MA | 1 |
| Seegmiller, JE | 1 |
| Demus, A | 1 |
| Kaiser, W | 1 |
| Schaub, J | 1 |
| Matwiyoff, NA | 1 |
| Ott, DG | 1 |
| Leiber, B | 1 |
| Olbrich, G | 1 |
4 reviews available for glycine and Lesch-Nyhan Syndrome
| Article | Year |
|---|---|
[Theory of pathogenesis in primary hyperuricamia].
Topics: Adenosine Monophosphate; Adult; Child; Female; Glucosephosphates; Glycine; Gout; Humans; Kidney; Les | 1975 |
Purine biosynthesis in mutant mammalian cells.
Topics: Adenosine; Amidophosphoribosyltransferase; Amino Sugars; Animals; Cells, Cultured; Cricetinae; Dimet | 1977 |
[Inborn errors of metabolism and their significance in urology and nephrology].
Topics: Acidosis, Renal Tubular; Alkaptonuria; Cystinuria; Diabetes Insipidus; Female; Glycine; Gout; Humans | 1976 |
Inborn errors of metabolism: clues to understanding human behavioral disorders.
Topics: Adrenal Hyperplasia, Congenital; Brain; Galactosemias; Glycine; Hepatolenticular Degeneration; Heter | 1976 |
1 trial available for glycine and Lesch-Nyhan Syndrome
| Article | Year |
|---|---|
Urate kinetics in hypoxanthine-guanine phosphoribosyltransferase deficiency: their significance for the understanding of gout.
Topics: Adolescent; Adult; Arthritis; Clinical Trials as Topic; Creatinine; Female; Genetic Linkage; Glycine | 1976 |
16 other studies available for glycine and Lesch-Nyhan Syndrome
| Article | Year |
|---|---|
Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.
Topics: Adult; Alanine; Amino Acid Substitution; Child, Preschool; Exons; Female; Glycine; Heterozygote; Hum | 2017 |
Urinary guanidinoacetate and creatine levels in patients with HPRT deficiency.
Topics: Creatine; Creatinine; Glycine; Humans; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome | 2008 |
Purine metabolism in heterozygous carriers of hypoxanthine-guanine phosphoribosyltransferase deficiency.
Topics: Adenine Phosphoribosyltransferase; Adolescent; Adult; Creatinine; Erythrocytes; Female; Glycine; Het | 1969 |
Decreased amino acids in various brain areas of patients with Lesch-Nyhan syndrome.
Topics: Adolescent; Adult; Amino Acids; Brain Chemistry; Child; Child, Preschool; Glutamine; Glycine; Humans | 1982 |
Identification of two new nucleotide mutations (HPRTUtrecht and HPRTMadrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene.
Topics: Amino Acid Sequence; Arginine; Base Sequence; DNA Mutational Analysis; Exons; Female; Glycine; Human | 1993 |
HPRT-mutations in Italian Lesch-Nyhan patients.
Topics: Base Sequence; Exons; Female; Glycine; Humans; Hypoxanthine Phosphoribosyltransferase; Italy; Lesch- | 1998 |
Adenoviruses encoding HPRT correct biochemical abnormalities of HPRT-deficient cells and allow their survival in negative selection medium.
Topics: Adenine; Adenoviridae; Animals; Carbon Radioisotopes; Cell Survival; Cells, Cultured; Culture Media; | 1999 |
Regulation of de novo purine biosynthesis in normal and 8-azaguanine-resistant Chinese hamster cells.
Topics: Azaguanine; Cell Line; Feedback; Glutamine; Glycine; Humans; Hypoxanthine Phosphoribosyltransferase; | 1978 |
Hypoxanthine-guanine phosphoribosyltransferase activity in individual erythrocytes: autoradiographic studies in heterozygotes.
Topics: Autoradiography; Brain; Erythrocytes; Female; Glycine; Heterozygote; Humans; Hypoxanthine Phosphorib | 1977 |
Altered excreton of 5-hydroxyindoleacetic acid and glycine in patients with the Lesch-Nyhan disease.
Topics: 5-Hydroxytryptophan; Adolescent; Carbidopa; Child; Child, Preschool; Glycine; Humans; Hydroxyindolea | 1977 |
[Folic acid metabolism in Lesch-Nythan syndrome].
Topics: Folic Acid; Glycine; Histidine; Humans; Lesch-Nyhan Syndrome; Methionine; Serine | 1977 |
Quantitation of ineffective erythropoiesis from the incorporation of [15N] delta-aminolaevulinic acid and [15N] glycin into early labelled bilirubin. II. Anaemic patients.
Topics: Adolescent; Aged; Aminolevulinic Acid; Anemia; Anemia, Aplastic; Anemia, Hypochromic; Anemia, Sidero | 1976 |
Effects of nicotinic acid on human fibroblast purine biosynthesis.
Topics: Adenine; Azaserine; Carbon Isotopes; Chromatography, Thin Layer; Diphosphates; Fibroblasts; Formates | 1972 |
The Lesch-Nyhan syndrome. Metabolic studies during administration of adenine.
Topics: Adenine; Carbon Isotopes; Glycine; Humans; Hypoxanthines; Infant; Lesch-Nyhan Syndrome; Male; Pentos | 1973 |
Stable isotope tracers in the life sciences and medicine.
Topics: Candida; Carbon Isotopes; Diabetes Mellitus; Eukaryota; Glucose; Glycine; Humans; Isotope Labeling; | 1973 |
[Lesch-Nyhan syndrome].
Topics: Aggression; Athetosis; Bites, Human; Chorea; Glycine; Humans; Hyperlipidemias; Intellectual Disabili | 1973 |