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Inborn errors of purine–pyrimidine metabolism

From Wikipedia, the free encyclopedia

Inborn errors of purine–pyrimidine metabolism
SpecialtyEndocrinology Edit this on Wikidata

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]

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  • Nucleotide Metabolism: Introduction and De novo Purine Metabolism – Biochemistry | Lecturio
  • Purine and Pyrimidine Salvage Pathway
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Transcription

References

  1. ^ 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.

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This page was last edited on 29 January 2023, at 06:23
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