Belgian Genetic Tests database
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
| Name: |
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
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| Description: |
Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.
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| ORPHAcode: |
79233
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| Synonyms: |
HPRT deficiency, grade I
HPRT partial deficiency
HPRT-related gout
HPRT-related hyperuricemia
HPRT1 partial deficiency
Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency
Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I
Kelley-Seegmiller syndrome
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| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
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