Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P00492 (hypoxanthine-guanine phosphoribosyltransferase)
 2,385 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An isocratic HPLC technique has been developed for the separation and measurement of urine and plasma oxypurines in a patient with xanthinuria. The case history and laboratory data are presented. Xanthine excretion was 172 mg/g creatinine and hypoxanthine was 45 mg/g creatinine. Uric acid was too small to be measured but uricase determination showed only 3 mg/24 hr. Serum oxypurine analysis showed hypoxanthine 0.87 mg/dl and xanthine 0.35 mg/dl. Uric acid was not seen in this patient's serum but could be readily measured in normal control subjects. The technique can also be used to separate nucleotides from purine bases, and we have demonstrated its application to the measurement of erythrocyte hypoxanthine guanine phosphoribosyl transferase and adenine phosphoribosyl transferase in a kindred associated with the Lesch-Nyhan syndrome.
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PMID:Separation and quantitation of oxypurines by isocratic high-pressure liquid chromatography: application to xanthinuria and the Lesch-Nyhan syndrome. 665 93

We report on a 16-day-old male with metabolic acidosis, hyperuricemia, hyperuricosuria, and nephrocalcinosis caused by Lesch-Nyhan syndrome. Activity of the hypoxanthine-guanine phosphoribosyl transferase (HPRT) enzyme in lysed erythrocytes was undetectable, and molecular DNA analysis confirmed the presence of a 4-base pair deletion at the 5' end of intervening sequence 8 in the HPRT1 gene, a change that affects a 5' splice site consensus sequence. Rasburicase, a urate oxidase enzyme, was administered on day 26 of life, with an endovenous dose of 0.20 mg/kg/d for 3 days. Plasma urate concentrations normalized (2.96 mg/dL) at 38 days of life. Kidney function was preserved in our patient. In summary, rasburicase proved to be a safe and effective treatment in a patient with Lesch-Nyhan syndrome with uric acid nephropathy in the neonatal period.
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PMID:Efficacy of rasburicase in hyperuricemia secondary to Lesch-Nyhan syndrome. 1899 78

The amounts of uric acid (UA) in non-invasive biological samples, such as saliva, are critical for diagnosis and therapy of gout, hyperuricemia, Lesch-Nyhan syndrome, and several other diseases. Here, disposable UA biosensors were fabricated with the screen printing technique on the substrate of flexible PET. The working electrode was modified with carbon nanotubes followed by uricase for UA detection with excellent selectivity. The biosensor showed good electrocatalytic activity toward UA with high sensitivity, low detection limit, and wide linear range, which covers the full range of UA levels in human saliva. We demonstrate that UA can be directly detected in human saliva with the biosensor and the experimental data were consistent with the clinical analysis. This study indicated that the non-invasive biosensor is an attractive and possible approach for the monitoring of salivary UA. Graphical abstract A disposable uric acid biosensor modified with carbon nanotubes followed by uricase was fabricated on flexible PET and applied for the monitoring of salivary uric acid in human saliva.
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PMID:An electrochemical biosensor based on multi-wall carbon nanotube-modified screen-printed electrode immobilized by uricase for the detection of salivary uric acid. 3279 3