Inborn errors of purine–pyrimidine metabolism

Self-mutilation symptoms in LND

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[edit | edit source]

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. Archived from the original on 2023-11-22. Retrieved 2008-05-07.

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Classification|

* ICD-10: E79
* ICD-9-CM: 277.2
* MeSH: D011686

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Inborn error of purine–pyrimidine metabolism

Purine metabolism|

| Anabolism|

* Adenylosuccinate lyase deficiency
* Adenosine Monophosphate Deaminase Deficiency type 1

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Nucleotide salvage|

* Lesch–Nyhan syndrome/Hyperuricemia
* Adenine phosphoribosyltransferase deficiency

Catabolism|

* Adenosine deaminase deficiency
* Purine nucleoside phosphorylase deficiency
* Xanthinuria
* Gout
* Mitochondrial neurogastrointestinal encephalopathy syndrome

Pyrimidine metabolism|

| Anabolism|

* Orotic aciduria
* Miller syndrome

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Catabolism|

* Dihydropyrimidine dehydrogenase deficiency

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