Kelley-Seegmiller syndrome (Q97744): Difference between revisions
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A síndrome de Kelley-Seegmiller é a forma mais leve de deficiência de hipoxantina-guanina fosforibosiltransferase (HPRT), um distúrbio hereditário do metabolismo das purinas e está associada à aumento de produção do ácido úrico levando à nefrolitíase e gota de início precoce. | |||
| description / en | description / en | ||
Kelley-Seegmiller syndrome is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction leading to urolithiasis, and early-onset gout. | |||
Revision as of 13:52, 16 August 2026
Kelley-Seegmiller syndrome is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction leading to urolithiasis, and early-onset gout.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1094084865 |
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| English | Kelley-Seegmiller syndrome |
Kelley-Seegmiller syndrome is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction leading to urolithiasis, and early-onset gout. |
