Inborn errors of purine–pyrimidine metabolism are a class of inborn error of metabolism disorders specifically affecting purine metabolism and pyrimidine metabolism. An example is Lesch–Nyhan syndrome.
| Inborn errors of purine–pyrimidine metabolism | |
|---|---|
| Specialty | Endocrinology  |
Urine tests may be of use in identifying some of these disorders.[1]
References
edit- ^ Wevers RA, Engelke UF, Moolenaar SH, et al. (April 1999). "1H-NMR spectroscopy of body fluids: inborn errors of purine and pyrimidine metabolism". Clin. Chem. 45 (4): 539–48. doi:10.1093/clinchem/45.4.539. PMID 10102915. Retrieved 2008-05-07.539-48&rft.date=1999-04&rft_id=info:doi/10.1093/clinchem/45.4.539&rft_id=info:pmid/10102915&rft.au=Wevers RA&rft.au=Engelke UF&rft.au=Moolenaar SH&rft.au=Bräutigam, C&rft.au=De Jong, JG&rft.au=Duran, R&rft.au=De Abreu, RA&rft.au=Van Gennip, AH&rft_id=http://www.clinchem.org/cgi/pmidlookup?view=long&pmid=10102915&rfr_id=info:sid/en.wikipedia.org:Inborn errors of purine–pyrimidine metabolism" class="Z3988">
External links
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