Inborn errors of purine–pyrimidine metabolism
|Inborn errors of purine–pyrimidine metabolism|
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.
- 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. Retrieved 2008-05-07.
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