Disorders of purines and pyrimidines

Handbook of Clinical Neurology - Tập 120 - Trang 827-838 - 2014
Roger E. Kelley1, Hans C. Andersson2
1Department of Neurology, Tulane University School of Medicine, New Orleans, LA, USA
2Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA, USA

Tài liệu tham khảo

Assmann, 1998, Presumptive ureidopropionase deficiency as a new defect in pyrimidine catabolism found with in vitro H-NMR spectroscopy, J Inherit Metab Dis, 21, 1 Bakkeren, 1984, Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydrothymine dehydrogenase deficiency, Clin Chim Acta, 140, 247, 10.1016/0009-8981(84)90206-7 Becker, 1987, Mechanism of accelerated purine nucleotide synthesis in human fibroblasts with superactive phosphoribosylpyrophosphate synthetase, J Biol Chem, 262, 5596, 10.1016/S0021-9258(18)45615-3 Becker, 1988, Superactivity of phosphoribosylpyrophosphate synthetase due to altered regulation by nucleotide inhibitors and inorganic phosphate, Biochim Biophys Acta, 882, 168, 10.1016/0304-4165(86)90151-0 Becker, 1988, Inherited superactivity of phosphoribosylpyrophosphate synthetase: association of uric acid overproduction and sensorial deafness, Am J Med, 85, 383, 10.1016/0002-9343(88)90591-8 Becker, 1995, The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity, J Clin Invest, 96, 2133, 10.1172/JCI118267 Berger, 1984, Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria, An inborn error of pyrimidine metabolism. Clin Chim Acta, 141, 227, 10.1016/0009-8981(84)90014-7 Blau, 1996, Tetrahydrobiopterin loading test in xanthine dehydrogenase and molybdenum cofactor deficiencies, Biochem Mol Med, 58, 199, 10.1006/bmme.1996.0049 Bzowska, 2000, Purine nucleoside phosphorylases: properties, functions, and clinical aspects, Pharmacol Ther, 88, 349, 10.1016/S0163-7258(00)00097-8 Calabrese, 1990, Precocious familial gout with reduced fractional urate clearance and normal purine enzymes, Q J Med, 75, 441 Camici, 2010, Pediatric neurological syndromes and inborn errors of purine metabolism, Neurochem Int, 56, 367, 10.1016/j.neuint.2009.12.003 Chalmers, 1969, Microscopic studies on crystals in skeletal muscle from two cases of xanthinuria, J Pathol, 99, 45, 10.1002/path.1710990107 Chou, 2007, Gene therapy for type I glycogen storage diseases, Curr Gene Ther, 7, 79, 10.2174/156652307780363152 Chou, 2002, Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex, Curr Mol Med, 2, 121, 10.2174/1566524024605798 Crifò, 2005, Inhibition of defective adenylsuccinate lyase by HNE: a neurological disease that may be affected by oxidative stress, Biofactors, 24, 131, 10.1002/biof.5520240115 Dalal, 2001, Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient, Clin Genet, 59, 430, 10.1034/j.1399-0004.2001.590608.x De Brouwer, 2007, Arts syndrome is caused by loss-of-function mutations in PRPS1, Am J Hum Genet, 81, 507, 10.1086/520706 De Volder, 1988, Regional brain glucose utilization in adenylosuccinase-deficient patients measured by positron emission tomography, Pediatr Res, 24, 238, 10.1203/00006450-198808000-00020 Endres, 1988, Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency, Eur J Pediatr, 148, 246, 10.1007/BF00441412 Eriksson, 2008, Molecular mechanism of mitochondrial DNA depletion diseases caused by deficiencies in enzymes in purine and pyrimidine metabolism, Nucleosides Nucleotides Nucleic Acids, 27, 800, 10.1080/15257770802146197 Eriksson, 2002, Structure and function of cellular deoxyribonucleoside kinases, Cell Mol Life Sci, 59, 1327, 10.1007/s00018-002-8511-x Fishbein, 1978, Myoadenylate deaminase deficiency: a new disease of muscle, Science, 200, 545, 10.1126/science.644316 Fox, 1972, Human phosphoribosylpyrophosphate synthetase. Kinetic mechanism and end product inhibition, J Biol Chem, 247, 2126, 10.1016/S0021-9258(19)45500-2 Giblett, 1972, Adenosine deaminase deficiency in two patients with severely impaired cellular immunity, Lancet, 2, 1067, 10.1016/S0140-6736(72)92345-8 Giblett, 1975, Nucleoside phosphorylase deficiency in a child with severely defective T cell immunity and normal B cell immunity, Lancet, 1, 1010, 10.1016/S0140-6736(75)91950-9 Hamajima, 1998, Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene, Am J Hum Genet, 63, 717, 10.1086/302022 Hirschhorn, 1993, Overview of biochemical abnormalities and molecular genetics of adenosine deaminase deficiency, Pediatr Res, 33, 35, 10.1203/00006450-199333011-00008 Hirschhorn, 1980, Amelioration of neurological abnormalities after enzyme replacement of adenosine deaminase deficieincy, N Engl J Med, 303, 377, 10.1056/NEJM198008143030706 Huguley, 1959, Refractory megaloblastic anaemia associated with excretion of orotic acid, Blood, 14, 615, 10.1182/blood.V14.6.615.615 Ichida, 1997, Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria, J Clin Invest, 99, 2391, 10.1172/JCI119421 Janecke, 2001, Molecular genetics of type 1 glycogen storage disease, Mol Genet Metab, 73, 117, 10.1006/mgme.2001.3179 Jinnah, 2006, Delineation of the motor disorder of Lesch–Nyhan disease, Brain, 129, 1201, 10.1093/brain/awl056 Johansson, 1996, Localization of the human deoxyguanosine kinase gene (DGUOK) to chromosome 2p13, Genomics, 38, 450, 10.1006/geno.1996.0654 Johnson, 2003, Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulphite oxidase deficiency, Prenat Diagn, 23, 6, 10.1002/pd.505 Kelley, 1969, Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout, Ann Intern Med, 70, 155, 10.7326/0003-4819-70-1-155 Kim, 2007, Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic atrophy (CMTX5), Am J Hum Genet, 81, 552, 10.1086/519529 Krishnan, 2008, Long-term cardiovascular mortality among middle-aged men with gout, Arch Intern Med, 168, 1104, 10.1001/archinte.168.10.1104 Labarthe, 2005, Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency, J Hepatol, 43, 333, 10.1016/j.jhep.2005.03.023 Laikind, 1986, Detection of 5′-phosphoribosyl-4-(N-succinylcarboxamide)-5-aminoimidazole in urine by use of the Bratton–Marshall reaction: identification of patients deficient in adenylosuccinate lyase activity, Analyt Biochem, 156, 81, 10.1016/0003-2697(86)90158-2 Lesch, 1964, A familial disorder of uric acid metabolism and central nervous system function, Am J Med, 36, 561, 10.1016/0002-9343(64)90104-4 Mandel, 2001, The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA, Nat Genet, 29, 337, 10.1038/ng746 Marie, 2004, AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC, Am J Hum Genet, 74, 1276, 10.1086/421475 Markert, 1994, Molecular basis of adenosine deaminase deficiency, Immunodeficiency, 5, 141 Meinsma, 1995, Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uraciluria, DNA Cell Biol, 14, 1, 10.1089/dna.1995.14.1 Morisaki, 1992, Molecular basis of AMP deaminase deficiency in skeletal muscle, Proc Natl Acad Sci, 89, 6457, 10.1073/pnas.89.14.6457 Nguyen, 2012, Lesch–Nyhan syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA, Mol Genet Metab, 106, 498, 10.1016/j.ymgme.2012.06.003 Nofech-Mozes, 2007, Neurologic abnormalities in patients with adenosine deaminase deficiency, Pediatr Neurol, 37, 218, 10.1016/j.pediatrneurol.2007.03.011 Nyhan, 2005, Disorders of purine and pyrimidine metabolism, Mol Genet Metab, 86, 25, 10.1016/j.ymgme.2005.07.027 Page, 1981, Hypoxanthine guanine phosphoribosyl transferase variants: correlation of clinical phenotype with enzyme activity, J Inherit Metab Dis, 4, 203, 10.1007/BF02263652 Page, 1997, Developmental disorder associated with increased cellular nucleotidase activity, Proc Natl Acad Sci U S A, 94, 11601, 10.1073/pnas.94.21.11601 Pesi, 2000, Cystolic 5′-nucleotidase hyperactivity in erythrocytes of Lesch-Nyhan syndrome patients, Neuroreport, 11, 1827, 10.1097/00001756-200006260-00006 Rogers, 2001, Cognitive and behavioral abnormalities in adenosine deaminase deficient severe combined immunodeficiency, J Pediatr, 139, 44, 10.1067/mpd.2001.115023 Salerno, 1997, Failure of muscle energy metabolism in a patient with adenylosuccinase deficiency An in vivo study by phosphorus NMR spectroscopy, Biochim Biophys Acta, 1360, 271, 10.1016/S0925-4439(97)00010-0 Salerno, 1999, Effect of D-ribose on purine synthesis and neurological symptoms in a patient with adenylosuccinase deficiency, Biochim Biophys Acta, 1453, 135, 10.1016/S0925-4439(98)00093-3 Salgueiro, 2004, Mutations in exon 14 of dihydropyridimine dehydrogenase and 5′-fluorouracil toxicity in Portuguese colorectal cancer patients, Genet Med, 6, 102, 10.1097/01.GIM.0000118061.66602.A5 Salviati, 2002, Mitochondrial DNA depletion and dGK gene mutations, Ann Neurol, 52, 311, 10.1002/ana.10284 Schlesinger, 2010, Diagnosing and treating gout: a review to aid primary care physicians, Postgrad Med, 122, 157, 10.3810/pgm.2010.03.2133 Sidi, 1985, Z-nucleotide accumulation in erythrocytes from Lesch–Nyhan patients, J Clin Invest, 76, 2416, 10.1172/JCI112255 Smith, 1961, Pyrimidine metabolism in man IV The enzymatic defect of orotic aciduria, J Clin Invest, 40, 656, 10.1172/JCI104298 Spiegel, 2006, Adenylosuccinate lyase deficiency, Mol Genet Metab, 89, 19, 10.1016/j.ymgme.2006.04.018 Suchi, 1997, Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families, Am J Hum Genet, 60, 525 Sumi, 1997, Pyrimidine metabolism in hereditary orotic aciduria, J Inherit Metab Dis, 20, 104, 10.1023/A:1005330127995 Trifilo, 2000, NAPDD patients exhibit altered electrophoretic mobility of cytosolic 5′nucleotidase, Adv Exp Med Biol, 486, 87, 10.1007/0-306-46843-3_17 Turner, 2003, UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy, J Clin Endocrinol Metab, 88, 1398, 10.1210/jc.2002-021973 Van Gennip, 1997, Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects, J Inherit Metab Dis, 20, 203, 10.1023/A:1005356806329 van Kuilenburg, 2004, B-ureipropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities, Hum Mol Genet, 13, 2793, 10.1093/hmg/ddh303 Wada, 1974, Hypouricemic mentally retarded infant with a defect of 5-phosphoribosyl-1-pyrophosphate synthetase of erythrociytes, Tohoku J Exp Med, 113, 149, 10.1620/tjem.113.149 Wadman, 1983, Absence of hepatic molybdenum cofactor: an inborn error of metabolism leading to a combined deficiency of suphite oxidase and xanthine dehydrogenase, J Inherit Metab Dis, 6, 78, 10.1007/BF01811328 Wong, 1996, Dopamine transporters are markedly reduced in Lesch–Nyhan disease in vivo, Proc Natl Acad Sci U S A, 93, 5539, 10.1073/pnas.93.11.5539