Inborn errors of purine-pyrimidine metabolism
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Inborn errors of purine-pyrimidine metabolism | |
ICD-10 | E79 |
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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]
References
- ↑ 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
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Template:Purine, pyrimidine, porphyrin, bilirubin metabolic pathology