Purine and pyrimidine metabolism

PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Disorders of purine and pyrimidine metabolism“, (Mol Genet Metab. 2005 Sep-Oct;86(1-2):25-33). Author is Nyhan WL from UCSD School of Medicine, Department of Pediatrics, La Jolla, USA. A number of disorders of purine metabolism lead to immunodeficiency; these include adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency. Marked susceptibility to infection is also seen in disorders of pyrimidine metabolism, classically in orotic aciduria. Orotic aciduria is a disorder of pyrimidine nucleotide synthesis, UMP synthetase deficiency, in which a single gene mutation can cause deficiency of two enzyme activities, orotic phosphoribosyltransferase and orotidine monophosphate decarboxylase which reside in a single protein. Pyrimidine degradation defects, leading to developmental delay are detected by analysis of the urine for pyrimidines and dihydropyrimidines. The recent discovery of аdenylosuccinatelyase deficiency and molybdenum cofactor deficiency points up the utility of simple colorimetric tests in bringing to light disorders of metabolism. To access the full abstract of the text article, click here.