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

Inhaltsverzeichnis

• I Purine Salvage Enzymes.
• IA Hypoxanthine Guanine Phosphoribosyltransferase (HGPRT) Deficiency 3.
• 1 Introductory Remarks.
• 2 The Clinical Aspects of HGPRT Deficiency.
• 3 The Biochemical Basis of HGPRT Deficiency.
• 4 Prenatal Diagnosis of Lesch-Nyhan Syndrome.
• 5 The Genetic Basis of HGPRT Deficiency.
• IB Adenine Phosphoribosyltransferase (APRT) Deficiency 41.
• 1 The Clinical Aspects of APRT Deficiency.
• 2 The Biochemical Basis of APRT Deficiency.
• 3 The Genetic Basis of APRT Deficiency.
• II Hyperuricemia and Gout Caused by a Defect in Renal Transport.
• 1 The Clinical Aspects of Hyperuricemia and Gout.
• 2 The Biochemical Basis of Hyperuricemia and Gout.
• 3 The Genetic Basis of Hyperuricemia and Gout.
• III Immunodeficiency Disease: Adenosine Deaminase (ADA) and Purine-Nucleoside Phosphorylase (PNP) Deficiencies.
• 2 The Clinical Aspects of ADA and PNP Deficiencies.
• 3 The Biochemical Basis and Pathophysiology of ADA and PNP Deficiencies.
• 4 The Genetic and Metabolic Basis of ADA Deficiency.
• IV The Purine Nucleotide Cycle.
• IVA Myoadenylate (Muscle AMP) Deaminase Deficiency 115.
• 1 Clinical Aspects and Biochemical Basis of AMP Deaminase Deficiency: A Clinician’s Point of View.
• 2 The AMP Deaminase Multigene Family in Rats and Humans.
• 3 The Genetic Basis of Myoadenylate Deaminase Deficiency in Man.
• IVB Adenylosuccinate Lyase (ASase) Deficiency 140.
• 1 The Clinical Aspects of ASase Deficiency.
• 2 The Biochemical Aspects of ASase Deficiency.
• 3 The Genetic Basis of ASase Deficiency.
• V Pyrimidine Metabolism.
• 1 Dihydropyrimidinuria Presenting in Childhood with Severe Developmental Retardation.
• 2 The Clinical Aspects of Inherited Defects in Pyrimidine Degradation.
• 3 Dihydropyrimidine Dehydrogenase Deficiency: Biochemical and Genetic Basis.