Biochemical and laboratory aspects of purine and ... - ERNDIM
Biochemical and laboratory aspects of purine and ... - ERNDIM
Biochemical and laboratory aspects of purine and ... - ERNDIM
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‘Dihydropyrimidinuria’:<br />
Dihydropyrimidase deficiency (DPYS)<br />
Urine <strong>and</strong> plasma: dihydrothymine+dihydrouracil<br />
but difficult - no UV absorption, GCMS resistant.<br />
raised thymine, uracil (HPLC & GCMS).<br />
In vitro assay: liver enzyme.<br />
Genotype: no common mutations described…<br />
Unpredictable phenotype like DPYD<br />
probably under-diagnosed.<br />
Also: next step <strong>of</strong> pyrimidine catabolism=<br />
ureidoproprionase deficiency: v rare?<br />
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