Inborn errors of purine–pyrimidine metabolism are a class of

inborn error of metabolism Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances ( subst ...

disorders specifically affecting

purine metabolism Purine metabolism refers to the metabolic pathways to synthesize and break down purines that are present in many organisms. Biosynthesis Purines are biologically synthesized as nucleotides and in particular as ribotides, i.e. bases attached to ...

and pyrimidine metabolism. An example is Lesch–Nyhan syndrome. Urine tests may be of use in identifying some of these disorders.

References

External links

Inborn errors of purine-pyrimidine metabolism {{metabolism-stub