Page last updated: 2024-11-08

serine and Lesch-Nyhan Syndrome

serine has been researched along with Lesch-Nyhan Syndrome in 2 studies

Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.

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 (2)

TimeframeStudies, this research(%)All Research%
pre-19902 (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
Giliberti, P1
Pignero, A1
Tancredi, F1
Peterson, JA1

Other Studies

2 other studies available for serine and Lesch-Nyhan Syndrome

ArticleYear
[Folic acid metabolism in Lesch-Nythan syndrome].
    Minerva pediatrica, 1977, Mar-24, Volume: 29, Issue:10

    Topics: Folic Acid; Glycine; Histidine; Humans; Lesch-Nyhan Syndrome; Methionine; Serine

1977
Cell hybridization.
    Methods in enzymology, 1974, Volume: 32

    Topics: Cell Division; Cell Fusion; Cell Line; Culture Media; Culture Techniques; Guanine; Humans; Hybrid Ce

1974