Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism

Explores the genetic basis, clinical aspects and biochemical foundations of hypoxanthine phosphoribosyltransferase deficiency, hyperuricaemia and gout, adenosine deaminase deficiency and adenine phosphoribosyltransferase deficiency.

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Inherited disorders of purine and pyrimidine metabolism in man lead to severe diseases. At the 2nd Muenchner Adventssymposium, the genetic basis, clinical aspects and the biochemical basis of the following diseases was discussed: Hypoxanthine phosphoribosyltransferase deficiency (HGPRT-deficiency), adenine phosphoribosyltransferase deficiency (APRT-deficiency), hyperuricemia and gout, adenosine deaminase deficiency (ADA-deficiency, and purine nucleoside phosphorylase deficiency (PNP-deficiency).