Inborn error 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.^[1]

Purine metabolism

Anabolism	Adenylosuccinate lyase deficiency – Adenosine Monophosphate Deaminase Deficiency type 1
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
Catabolism	Dihydropyrimidine dehydrogenase deficiency

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.