Hypoxanthine-guanine phosphoribosyltransferase deficiency and erythrocyte synthesis of pyridine coenzymes
โ Scribed by V. Micheli; S. Sestini; M. Rocchigiani; G. Jacomelli; F. Manzoni; L. Peruzzi; B.S. Gathof; E. Zammarchi; G. Pompucci
- Book ID
- 117176274
- Publisher
- Elsevier Science
- Year
- 1999
- Tongue
- English
- Weight
- 653 KB
- Volume
- 64
- Category
- Article
- ISSN
- 0024-3205
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We have determined the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT; HPRT1) deficiency in eight Lesch-Nyhan patients and in five partially HPRT deficient patients with mild to severe neurologic symptoms. Eight of these thirteen mutations have not been previously described.
The Lesch-Nyhan syndrome is a severe X chromosome-linked human disease caused by a virtual absence of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity. A partial deficiency in the activity of this enzyme can result in gouty arthritis. To determine the genetic basis for reduction or los