【Fexofenadine】評論

(B) HGPRT（hypoxanthineguanine phosphoribosyltransferase）缺乏Hypoxanthine-guanine phosphoribosyltransferase (HGPRTase) deficiency is an X chromosome-linked inherited disorder of purine metabolism in which purine nucleotide and urate overproduction is accompanied biochemically by severe hyperuricemia and hyperuricosuria and clinically by recurrent uric acid urolithiasis, gout, and, in more severe forms of this enzyme deficiency, neurobehavioral abnormalities characterizing the spectrum of Lesch-Nyhan disease and its variants [82].REF: UpToDate: Asymptomatic hyperuricemia

【terminator812】評論

體內PRPP的增加會導致尿酸累積，導致高尿酸血症和高尿酸尿症。嚴重者可能導致痛風。體內次黃嘌呤-鳥嘌呤磷酸核苷轉移酶（HGPRT）的降低會導致PRPP在身體中累積，稱為萊希-尼亨症候群，因為HGPRT會將PRPP回收以製造嘌呤[

【貓】評論

A. Tumor lysis syndrome(TLS):腫瘤溶解症後群指大量的腫瘤細胞破裂、溶解，釋出大量的細胞內物質(包含鉀、磷、核酸等)，釋出的核酸在體內形成大量的尿酸，形成高尿酸血症B. HGPRT(hypoxanthineguanine phosphoribosyltransferase) deficiency-HGPRT功能: 再回收使用DNA/RNA鹼基，接上糖基(此指PRPP，5-phosphoribosyl-pyrophosphate)，形成necleotide；屬於purine salvage synthesis的其中一過程此酵素缺乏會導致鹼基再回收使用量下降，大量的核酸經一系列酵素轉變成尿酸，尿酸上升-相關疾病: Lesch-Nyhan syndrome (LNS)屬於X-linked 隱性疾病，位於X染色體上攜帶的基因會使HGPRT缺乏D. PRPP(phosphoribosyl pyrophosphate) synthetase superactivity-PRPP synthetase功能: 藉由ribose-5-phosphate合成PRPP(PRPP為合成nucleotide的原料之一；uric acid的上游端)-相關疾病: PRPP synthetase superactivity屬於X-linked疾病，PRPP synthetase過度活化，大量製造核酸且代謝成大量尿酸，有早發型(嚴重)和晚發型(輕微)兩種