Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome
<p>Abstract</p> <p>Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity is an inborn error of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzymatic deficien...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2007-12-01
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| Series: | Orphanet Journal of Rare Diseases |
| Online Access: | http://www.OJRD.com/content/2/1/48 |