Article
Lesch-Nyhan variant syndrome: variable presentation in 3 affected family members.
Archives of neurology - 1 Jun 2010
Sarafoglou Kyriakie, Grosse-Redlinger Krista, Boys Christopher J, Charnas Laurence, Otten Noelle, Broock Robyn, Nyhan William L
Abstract excerpt
BACKGROUND: Lesch-Nyhan disease is an inborn error of purine metabolism that results from deficiency of the activity of hypoxanthine phosphoribosyltransferase (HPRT). The heterogeneity of clinical phenotypes seen in HPRT deficiency corresponds to an inverse relationship between HPRT enzyme activity and clinical severity. With rare exception, each mutation produces a stereotypical pattern of clinical disease;...
Topics
- Aged
- Child, Preschool
- DNA Mutational Analysis
- Family Health
- Female
- Humans
- Hypoxanthine Phosphoribosyltransferase
- Lesch-Nyhan Syndrome
- Male
- Mutation