Journal article

Inborn errors of pyrimidine metabolism: clinical update and therapy

Shanti Balasubramaniam, John A Duley, John Christodoulou

JOURNAL OF INHERITED METABOLIC DISEASE | WILEY | Published : 2014

Abstract

Inborn errors involving enzymes essential for pyrimidine nucleotide metabolism have provided new insights into their fundamental physiological roles as vital constituents of nucleic acids as well as substrates of lipid and carbohydrate metabolism and in oxidative phosphorylation. Genetic aberrations of pyrimidine pathways lead to diverse clinical manifestations including neurological, immunological, haematological, renal impairments, adverse reactions to analogue therapy and association with malignancies. Maintenance of cellular nucleotides depends on the three aspects of metabolism of pyrimidines: de novo synthesis, catabolism and recycling of these metabolites. Of the ten recognised disord..

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