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Purine & Pyrimidine Metabolic diseases
Background
Purines are the source of our energy, ATP (Adenosine Triphosphate), and with pyrimidines are the building blocks of our DNA. Their production, recycling and breakdown involves a number of steps, each catalysed by a different enzyme. These rare disorders result when one of these enzymes is deficient. To date, twenty-seven enzyme deficiencies have been described, but some appear relatively benign with no obvious clinical problems or symptoms.
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