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Inherited disorders of purine and pyrimidine metabolism in man lead to severe diseases. At the 2nd M}nchner Adventssymposium the state of the art as to the genetic basis, clinical aspects, and the biochemical basis has been given by leading experts in the fields concerning the following diseases: Hypoxanthine phosphoribosyltransferase deficiency (HGPRT-deficieny), adenine phosphoribosyltransferase deficiency (APRT-deficiency), hyperuricemia and gout, adenosine deaminase deficiency (ADA-deficiency, purine nucleoside phosphorylase deficiency (PNP-deficiency). All contributions of the symposium are published within this volume thus giving and overview of this most interesting field.
One person in four in the industrialized countries suffers from hyperuricemia and is therefore at risk of developing gouty arthritis, nephrolithiasis, or any of the other consequences of urate deposition. At present, far too little is known about urate deposition and the mechanisms by which it occurs, as well as about its clinical consequences, which include formation of toph; over the helix of the ear or in bones close to joints that have never exhibited an attack, development of bursitis, chronic tendovaginitis leading to carpal tunnel syndrome, and gouty paraplegia. Information on these matters is needed to estimate the risks of hyperuricemia and to determine when therapeutic intervention is indicated. The contributions and discussions in this book, resulting from an international symposium held in December 1990 in the Medizinische Poliklinik in Munich, provide an up-to-date source of current knowledge about hyperuricemia in man and its clinical consequences.
Das Buch behandelt alle Aspekte des Purinstoffwechsels sowie den Purimidinstoffwechsel. Die klinischen Abschnitte werden durch Kapitel zu denbiochemischen Grundlagen er- g{nzt. Neben der Terapie von St-rungen des Purinstoffwech- sels wird auch die Bedeutung der Purinanaloga in der medika- ment-sen Therapie diskutiert, wo sie z.B. zur Behandlung der HIV-Infektion eingesetzt werden. Das Buch ist deshalb sowohl f}r denklinisch t{tigen Arzt als auch f}r den Wis- senschaftler interessant.
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