Inborn errors of purine–pyrimidine metabolism explained

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]

Notes and References

1. Wevers RA . 1H-NMR spectroscopy of body fluids: inborn errors of purine and pyrimidine metabolism . Clin. Chem. . 45 . 4 . 539–48 . April 1999 . 10102915 . 2008-05-07 . vanc. Engelke UF . Moolenaar SH . 3 . Bräutigam . C . De Jong . JG . Duran . R . De Abreu . RA . Van Gennip . AH. 10.1093/clinchem/45.4.539 . free .