title: [Inherited disorders of uric acid metabolism--classification, enzymatic- and DNA-diagnosis].
abstract: Uric acid is the end product of purine metabolism in human. Then, the enzymatic abnormalities, concerning purine metabolism, cause disorders of uric acid metabolism including hyperuricemia and hypouricemia. The superactivity of 5-phosphoribosyl-pyrophosphate (PRPP) synthetase and deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) caused hyperuricemia. In glycogen storage diseases of type I, III, V, and VII, decreased energy supply induces hyperuricemia by accelerating ATP degradation. Deficiencies of xanthine oxidase (XO), purine nucleoside phosphorylase (PNP), and PRPP were reported causing hypouricemia. Many methods for DNA-diagnosis were developed including Southern blot, Northern blot, PCR-SSCP (polymerase chain reaction-single strand conformation polymorphism), PCR-RFLP (restriction fragment length polymorphism), and allele specific oligonucleotide hybridization etc.
authors.affiliation: Otsuka Department of Clinical and Molecular Nutrition, School of Medicine, University of Tokushima.
authors.forename: H
authors.initials: H
authors.lastname: Iwahana
authors.forename: M
authors.initials: M
authors.lastname: Itakura
mesh_terms: D000255:Adenosine Triphosphate / Q000378:metabolism; D004247:DNA / Q000032:analysis*; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency; D015336:Molecular Probe Techniques; D009693:Nucleic Acid Hybridization; D010754:Phosphoribosyl Pyrophosphate / Q000172:deficiency; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis* / Q000209:etiology; D011687:Purines / Q000378:metabolism; D012268:Ribose-Phosphate Pyrophosphokinase / Q000378:metabolism; D014527:Uric Acid / Q000097:blood*; D014969:Xanthine Oxidase / Q000172:deficiency
chemical_list: D011687:Purines; D014527:Uric Acid; D010754:Phosphoribosyl Pyrophosphate; D000255:Adenosine Triphosphate; D004247:DNA; D014969:Xanthine Oxidase; D011683:Purine-Nucleoside Phosphorylase; D007041:Hypoxanthine Phosphoribosyltransferase; D012268:Ribose-Phosphate Pyrophosphokinase; C030985:purine