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

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. Front Matter....Pages I-XIV Front Matter....Pages 1-1 Introductory Remarks....Pages 3-4 The Clinical Aspects of HGPRT Deficiency....Pages 5-11 The Biochemical Basis of HGPRT Deficiency....Pages 12-26 Prenatal Diagnosis of Lesch-Nyhan Syndrome....Pages 27-32 The Genetic Basis of HGPRT Deficiency....Pages 33-40 The Clinical Aspects of APRT Deficiency....Pages 41-47 The Biochemical Basis of APRT Deficiency....Pages 48-53 The Genetic Basis of APRT Deficiency....Pages 54-60 Front Matter....Pages 61-61 The Clinical Aspects of Hyperuricemia and Gout....Pages 63-68 The Biochemical Basis of Hyperuricemia and Gout....Pages 69-72 The Genetic Basic of Hyperuricemia and Gout....Pages 73-80 Front Matter....Pages 81-81 Introductory Remarks....Pages 83-83 The Clinical Aspects of ADA and PNP Deficiencies....Pages 84-91 The Biochemical Basis and Pathophysiology of ADA and PNP Deficiencies....Pages 92-103 The Genetic and Metabolic Basis of ADA Deficiency....Pages 104-111 Front Matter....Pages 113-113 Clinical Aspects and Biochemical Basis of AMP Deaminase Deficiency: A Clinician’s Point of View....Pages 115-121 The AMP Deaminase Multigene Family in Rats and Humans....Pages 122-131 The Genetic Basis of Myoadenylate Deaminase Deficiency in Man....Pages 132-139 The Clinical Aspects of ASase Deficiency....Pages 140-143 The Biochemical Aspects of ASase Deficiency....Pages 144-155 Front Matter....Pages 113-113 The Genetic Basis of ASase Deficiency....Pages 156-162 Front Matter....Pages 163-163 Dihydropyrimidinuria Presenting in Childhood with Severe Developmental Retardation....Pages 165-167 The Clinical Aspects of Inherited Defects in Pyrimidine Degradation....Pages 168-175 Dihydropyrimidine Dehydrogenase Deficiency: Biochemical and Genetic Basis....Pages 176-182