Inborn errors of purine-pyrimidine metabolism
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| Inborn errors of purine-pyrimidine metabolism | |
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| Classification and external resources | |
| ICD-10 | E79 |
| ICD-9 | 277.2 |
| MeSH | D011686 |
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]
[edit] References
- ^ 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. PMID 10102915. http://www.clinchem.org/cgi/pmidlookup?view=long&pmid=10102915. Retrieved 2008-05-07.
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