| 单词 | hgprt deficiency |
| 释义 | HGPRT deficiencyHGPRT deficiencyDeficiency of hypoxanthine-guanine-phosphor-ibosyl transferase. The absence of this enzyme occurs as the result of a rare X-linked recessive inheritance and leads to severe over-production of uric acid, spastic paralysis, ATHETOSIS, mental deficiency and a strong tendency to self-mutilation. Also known as LESCH-NYHAN SYNDROME. |
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