Biochemical and laboratory aspects of purine and ... - ERNDIM
Biochemical and laboratory aspects of purine and ... - ERNDIM
Biochemical and laboratory aspects of purine and ... - ERNDIM
You also want an ePaper? Increase the reach of your titles
YUMPU automatically turns print PDFs into web optimized ePapers that Google loves.
‘Lesch Nyhan Disease (LND)’:<br />
HPRT deficiency<br />
Urine/plasma: urate over-production (note<br />
importance <strong>of</strong> correct age-matched ranges!),<br />
raised hypoxanthine + xanthine.<br />
Red cells: nucleotide abnormalities = ‘ZTP’,<br />
high NAD & UDP-Glu; low GTP.<br />
In vitro assay (red cells/fibroblasts): ‘Easy’.<br />
Genotyping: Difficult: No common mutation,<br />
requires sequencing <strong>of</strong> the affected patient.<br />
‘Partial’ deficiency <strong>purine</strong> overproduction.<br />
In vitro assay: may mislead (needs intact assay)<br />
Underdiagnosed present late in renal failure<br />
PDF created with FinePrint pdfFactory Pro trial version http://www.fineprint.com
Change language