Inborn errors of purine–pyrimidine metabolism

Inborn errors of purine-pyrimidine metabolism
Classification and external resources
Specialty	endocrinology
ICD-10	E79
ICD-9-CM	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. (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.

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

Anabolism	Orotic aciduria Miller syndrome

Catabolism	Dihydropyrimidine dehydrogenase deficiency

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