HGPRT deficiency | definition of HGPRT deficiency by Medical dictionary
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.
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005
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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
. Capillary electrophoresis can also be used to measure many analytes, but it requires time-consuming sample preparation (14).
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
. Guanine was not detectable, whereas orotidine was clearly increased in both samples (112 and 63 [micro]mol/mmol creatinine).