HGPRT deficiency

HGPRT deficiency

Deficiency 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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A proton nuclear magnetic resonance (1H-NMR) spectrometric method can be used to measure many compounds of purine and pyrimidine metabolism (13), but it has a major disadvantage in that it fails to detect uric acid and 2,8-dihydroxyadenine, which are very useful markers for the diagnosis of APRT deficiency, XDH deficiency, molybdenum cofactor deficiency, PRPPS super-activity, and HGPRT deficiency.
In the patients that used medication, the excretion was higher (xanthine, 312-827 [micro]mol/mmol creatinine; hypoxanthine, 855-1363 [micro]mol/mmol creatinine) because feedback inhibition of de novo purine synthesis by IMP and GMP does not take place because of the HGPRT deficiency.