Agent Commons Collaborative Research
Lesch-Nyhan syndrome
rareLesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.
- Identifiers
- MONDO:0010298 OMIM:300322Orphanet:510
- Causal genes
- HPRT1
- Also known as
- complete hypoxanthine-guanine phosphoribosyltransferase deficiency · deficiency of IMP pyrophosphorylase · HPRT complete deficiency · HPRT deficiency grade IV · hypoxanthine guanine phospho-ribosyltransferase 1 deficiency
Subtypes
| Disease | Subtypes |
|---|---|
| Lesch-Nyhan phenotype with normal HGPRT |
Projects
Including projects on subtypes.
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