Inborn errors of purine-pyrimidine metabolism

ICD-10 | E79
ICD-9 | 277.2
MeSH | D011686

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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.

Urine tests may be of use in identifying some of these disorders.[1]

## References

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1. ↑ Wevers RA, Engelke UF, Moolenaar SH; et al. (1999). "1H-NMR spectroscopy of body fluids: inborn errors of purine and pyrimidine metabolism". Clin. Chem. 45 (4): 539–48. PMID 10102915. Retrieved 2008-05-07. Unknown parameter `|month=` ignored (help)CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

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