Colorado PROFILES, The Colorado Clinical and Translational Sciences Institute (CCTSI)
Keywords
Last Name
Institution

Contact Us
If you have any questions or feedback please contact us.

Lesch-Nyhan Syndrome

"Lesch-Nyhan Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

expand / collapse MeSH information
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)


expand / collapse publications
This graph shows the total number of publications written about "Lesch-Nyhan Syndrome" by people in this website by year, and whether "Lesch-Nyhan Syndrome" was a major or minor topic of these publications.
Bar chart showing 3 publications over 3 distinct years, with a maximum of 1 publications in 1990 and 1996 and 1998
To see the data from this visualization as text, click here.
People Expand Description
_
Similar Concepts expand description
_
Top Journals expand description

Copyright © 2019 The Regents of the University of Colorado, a body corporate. All rights reserved. (Harvard PROFILES RNS software version: 2.11.1)