Dictionary of Human Evolution and Biology

  • -id > 9:3

Lesch-Nyhan Syndrome

Heritable X-linked recessive condition characterized by spastic cerebral palsy, and severe mental retardation coupled with aggressive and self-destructive behaviors; death before puberty. A metabolic disease affecting hypoxanthine-guaninephosphoribosyl transferase (HGPRT)-mediated guanine conversion, resulting in failure to recycle nucleic acids, converting them instead to uric acid, which manifests as urinary stones (seen as an orange sand in diapers). Fibroblasts of female carriers exhibit about 50% HGPRT activity due to the random effects of X inactivation.

Full-Text Search Entries