Abstract
Adenine phosphoribosyltransferase (APRT) deficiency is a cause of urolithiasis and renal failure (1, 2). Due to the deficiency of APRT, adenine cannot be converted to AMP, and adenine thus accumulated in the body is catabolized to 2, 8-dihydroxyadenine via xanthine oxidase. Since 2, 8-dihydroxyadenine is a quite insoluble material, it makes crystals in urine. Although mild cases develop urinary stones (3), renal failure requiring hemodialysis or renal transplantation could occur in severe cases (4, 5). Since this disease can successfully be treated with allopurinol, correct diagnosis is important (2).
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
P. Cartier, and M. Hamet, Une nouvelle maladie metabolique: le deficit complete en adenine-phosphoribosyltransferase avec lithiase de 2, 8-dihydroxyadenine., C. R. Acad. Sci. (Paris) 279: 883 (1974).
H. A. Simmonds and K. J. Van Acker, Adenine phosphoribosyltransferase deficiency: 2, 8-dihydroxyadenine lithiasis., in: “The Metabolic Basis of Inherited Disease,” J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, J. L. Goldstein, M. S. Brown eds., MaGraw-Hill Book Company, New York, p 1144 (1983).
F. R. Witten, J. W. Morgan, J. G. Foster, and J. F. Glenn, dihydroxyadenine urolithiasis: Review of the literature and report of a case in the United States., J. Urol. 130: 938 (1983).
M. C. Greenwood, M. J. Dillon, H. A. Simmonds, T. C. M. Barratt, J. R. Pinocott, and C. Metreweli, Renal failure due to 2, 8-dihydroxyadenine urolithiasis., Eur. J. Pediatr. 138: 346 (1982).
K. J. Van Acker, H. A. Simmonds, C. Potter, and J. S. Cameron, Complete deficiency of adenine phosphoribosyltransferase: report of a family., N. Engl. J. Med. 297: 127 (1977).
N. Kamatani, C. Terai, S. Kuroshima, K. Nishioka, and K. Mikanagi, Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies., Hum. Genet. 75: 163 (1987).
N. Kamatani, T. Sonoda, and K. Nishioka, Distribution of the patients with 2, 8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan., J. Urol. in press
S. Fujimori, I. Akaoka, K. Sakamoto, H. Yamanaka, K. Nishioka, and N. Kamatani, Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2, 8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies., Hum. Genet. 71: 171 (1985).
N. Kamatani, F. Takeuchi, Y. Nishida, H. Yamanaka, K. Nishioka, and K. Tatara, Fujimori, S., Kaneko. K. Akaoka. I. and. Tofuku. Y. Severe, impairment, in. adenine. metabolism, with. a. partial, deficiency, of. adenine. phosphoribosyltransferase. Metabolism 34: 164 (1985).
S. Fujimori, I. Akaoka, F. Takeuchi, H. Kanayama, K. Tatara, K. Nishioka, and N. Kamatani, Altered kinetic properties of a mutant adenine phosphoribosyltransferase., Metabolism 35: 187 (1986).
Y. Hidaka, S. A. Tarle, S. Fujimori, N. Kamatani, N. Kelley, and T. D. Pallella, Human adenine phosphoribosyltransferase (APRT) deficiency: Demonstration of a single mutant allele common to the Japanese., J. Clin. Invest. 81: 945 (1988).
Y. Nishida, S. Hirano, and A. Miyamoto, adenine phosphoribosyltransferase in 2, 8-dihydroxyadenine urolithiasis., Arch. Intern. Med. 146: 2068 (1986).
S. Abe, K. Hayasaka, K. Narisawa, K. Tada, G. Okada, H. Koyama, S. Kurosu, M. Kudoh, and K. Matsushita, Partial and complete adenine phosphoribosyltransferase deficiency associated with 2, 8-dihydroxyadenine urolithiasis: kinetic and immunochemical properties of APRT., Enzyme 37: 182 (1987).
T. Nobori, N. Kamatani, K. Mikanagi, Y. Nishida, and K. Nishioka, Establishment and characterization of B cell lines from individuals with various types of adenine phosphoribosyltransferase deficiencies., Biochem. Biophys. Res. Commun. 137: 998 (1986).
N. Kamatani, S. Kuroshima, C. Terai, K. Kawai, K. Mikanagi, and K. Nishioka, Selection of human cells having two different types of mutations in individual cells (genetic/artificial mutants): Application to the diagnosis of the heterozygous state for a type of adenine phosphoribosyltransferase deficiency., Hum. Genet. 76: 148 (1987).
M. K. Dush, J. M. Sikela, S. A. Khan, J. A. Tischfield, and P. J. Stambrook, Nucleotide sequence and organization of the mouse adenine phosphribosyltransferase gene: presence of a coding region common to animal and bacterial phosphoribosyltransferases that has a variable intron/exon arrangement., Proc. Natl. Acad. Sci. USA 82: 2731 (1985).
B. Hove-Jensen, K. W. Harlow, C. J. King and R. L. Switzer, Phosphoribosylpyrophosphate synthetase of Escherichia coli. properties of the purified enzyme and primary structure of the prs gene. J. Biol. Chem. 261: 6765 (1986).
H. V. Hershey, and M. W. Taylor, Nucleotide sequence and deduced amino acid sequence of Escherichia coli adenine phosphoribosyltransferase and comparison with other analogous enzymes., Gene 43: 287 (1986).
M. Taira, S. Ishijima, K. Kita, K. Yamada, T. Iizasa, and M. Tatibana, Nucleotide and deduced amino acid sequences of two distinct cDNAs for rat phosphoribosylpyrophosphate synthetase., J. Biol. Chem. 262: 14867 (1987).
P. J. Stambrook, M. K. Dush, J. J. Trill, and J. A. Tischfield, Cloning of a functional human adenine phosphoribosyltransferase (APRT) gene: Identification of a restirction fragment length polymorphism and preliminary analysis of DNAs from APRT-deficient families and cell mutants., Somat. Cell. Mol. Genet. 10: 359 (1984).
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1989 Plenum Press, New York
About this chapter
Cite this chapter
Kamatani, N., Kuroshima, S., Terai, C., Hakoda, M., Nishioka, K., Mikanagi, K. (1989). Diagnosis of Genotypes for Adenine Phosphoribosyltransferase (APRT) Deficiency. In: Mikanagi, K., Nishioka, K., Kelley, W.N. (eds) Purine and Pyrimidine Metabolism in Man VI. Advances in Experimental Medicine and Biology, vol 253A. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-5673-8_8
Download citation
DOI: https://doi.org/10.1007/978-1-4684-5673-8_8
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4684-5675-2
Online ISBN: 978-1-4684-5673-8
eBook Packages: Springer Book Archive