Tag: Purine-Pyrimidine
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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…
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