Page last updated: 2024-10-20

urea and Lesch-Nyhan Syndrome

urea has been researched along with Lesch-Nyhan Syndrome in 5 studies

pseudourea: clinical use; structure
isourea : A carboximidic acid that is the imidic acid tautomer of urea, H2NC(=NH)OH, and its hydrocarbyl derivatives.

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)

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19905 (100.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Nyhan, WL1
Rassin, DK1
Lloyd, KG1
Kelley, WN1
Fox, I1
Ferrer, I1
Costell, M1
GrisolĂ­a, S1
Omenn, GS1
Ceccarelli, M1
Ciompi, ML1
Pasero, G1

Reviews

2 reviews available for urea and Lesch-Nyhan Syndrome

ArticleYear
Understanding inherited metabolic disease.
    Clinical symposia (Summit, N.J. : 1957), 1980, Volume: 32, Issue:5

    Topics: Amniocentesis; Carboxy-Lyases; Female; Genetic Carrier Screening; Homocystinuria; Humans; Infant, Ne

1980
Inborn errors of metabolism: clues to understanding human behavioral disorders.
    Behavior genetics, 1976, Volume: 6, Issue:3

    Topics: Adrenal Hyperplasia, Congenital; Brain; Galactosemias; Glycine; Hepatolenticular Degeneration; Heter

1976

Other Studies

3 other studies available for urea and Lesch-Nyhan Syndrome

ArticleYear
Decreased amino acids in various brain areas of patients with Lesch-Nyhan syndrome.
    Neuropediatrics, 1982, Volume: 13, Issue:3

    Topics: Adolescent; Adult; Amino Acids; Brain Chemistry; Child; Child, Preschool; Glutamine; Glycine; Humans

1982
Lesch-Nyhan syndrome-like behavior in rats from caffeine ingestion: changes in HGPRTase activity, urea and some nitrogen metabolism enzymes.
    FEBS letters, 1982, May-17, Volume: 141, Issue:2

    Topics: Acetylcholinesterase; Animals; Aspartate Carbamoyltransferase; Brain; Caffeine; Carbamoyl-Phosphate

1982
Acute renal failure during adenine therapy in Lesch-Nyhan syndrome.
    Advances in experimental medicine and biology, 1974, Volume: 41

    Topics: Acute Kidney Injury; Adenine; Body Weight; Child, Preschool; Creatinine; Erythrocytes; Humans; Hydro

1974