Purines and pyrimidines metabolism is crucial for cellular function because it provides the nucleotides required for DNA and RNA synthesis, for energy transfer, signal transduction and coenzyme formation. This module provides an overview of the disorders related to the metabolic pathways involved in purine and pyrimidine metabolism, as well as the laboratory methods used to detect these disorders. It also extensively discusses the neurological and renal clinical features associated with purine and pyrimidine disorders and their relationship to each step of the metabolic pathways.
Authors: Sandrine Marie, Marie-Cécile Nassogne, Joseph P. Dewulf
