Abstract
Adenylosuccinase (EC 4.3.2.2; ASase) deficiency is a newly discovered inborn error of metabolism that involves the purine de novo pathway and results in the accumulation of dephosphorylated substrate derivatives of the defective enzyme, namely succinylaminoimidazole carboxamide (SAICA) riboside and succinyladenosine (S-Ado).1–3 Although substantial progress has been made regarding our knowledge of the inherited disease, including its characterisation at gene level,4–5 much work remains to be done, particularly with respect to the mechanisms whereby the defect exerts its deleterious effects on brain function.
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
J. Jaeken and G. Van den Berghe. An infantile autistic syndrome characterized by the presence of succinylpurines in body fluids, Lancet 2: 1058–1061 (1984)
J. Jaeken, S. K. Wadman, M. Duran, F. J. Van Sprang, F. A. Beemer, R. A. Holl, P. M. Theunissen, P. De Cock, F. Van den Bergh, M. F. Vincent, and G. Van den Berghe. Adenylosuccinase deficiency:an inborn error of purine nucleotide synthesis. Eur. J. Pediatr. 148: 126–131 (1988)
C. Salerno, C. Crifò, and O. Giardini. Adenylosuccinase deficiency:a patient with impaired erythrocyte activity and anomalous response to intravenous fructose. J. Inher. Metab. Dis. 18: 602–608 (1995)
R. J. Stone, J. Aimi, B. A. Barshop, J. Jaeken, G. Van den Berghe, H. Zalkin, and J. E. Dixon. A mutation in adenylosuccinate lyase associated with mental retardation and autistic features. Nature Genetics 1: 59–63 (1992)
D. Verginelli, B. Luckow, C. Salerno, and M. Gross. Genetic basis of adenylosuccinase deficiency in an Italian patient. Adv. Exp. Med. Biol. (1997) this volume
M. F. Vincent and G. Van den Berghe. Influence of succinylpurines on the binding of adenosine to a particulate fraction of rat cerebral cortex. Adv. Exp. Med. Biol. 253B: 441–445 (1989)
C. Salerno, S. Iotti, R. Lodi, C. Crifò, and B. Barbiroli. Muscle energy metabolism in human adenylosuccinase deficiency:an in vivo 31P-NMR spectroscopy study. Adv. Exp. Med. Biol. (1997) this volume
C. Salerno, S. Iotti, R. Lodi, C. Crifò, and B. Barbiroli. Failure of muscle energy metabolism in a patient with adenylosuccinate lyase deficiency:an in vivo study by phosphorus NMR spectroscopy. Biochim. Biophys. Acta (1997) in press
G. H. Hitchings. Effects of allopurinol in relation to purine biosynthesis. Ann. Rheum. Dis. 25: 601–610 (1966)
S. W. Brusilow, J. Tinker, and M. L. Batshaw. Amino acid acylation:a mechanism of nitrogen excretion in inborn errors of urea synthesis. Science 207: 659–661 (1980)
G. Van den Berghe and J. Jaeken. Adenylosuccinase deficiency. Adv. Exp. Med. Biol. 195A: 27–33 (1986)
S. Segal and J. Foley. The metabolism of D-ribose in man. J. Clin. Invest. 37: 719–735 (1958)
M. Gross and N. Zöllner. Serum levels of glucose, insulin, and C-peptide during long-term D-ribose administration in man. Klin. Wochenschr. 69: 31–36 (1991)
S. Segal, J. Foley, and J. B. Wyngaarden. Hypoglycemic effect of D-ribose in man. Proc. Soc. Exp. Biol. Med. 95: 551–555 (1957)
H. Z. Sable. Pentose metabolism in extracts of yeast and mammalian tissues. Biochim. Biophys. Acta 8: 687–691 (1952)
C. R. Park, R. L. Post, R. L. Kaiman, J. H. Wright, L. H. Johnson, and H. E. Morgan. The transport of glucose and other sugars across cell membranes and the effect of insulin. Ciba Foundation Colloquia on Endocrinology 9: 240–249 (1956)
J. S. Easterby. A generalized theory of the transition time for sequential enzyme reactions. Biochem. J. 199: 155–161 (1981)
L. M. Brandt and J. M. Lowenstein. Effect of diet on adenylosuccinase activity in various organs of rat and chicken. J. Biol. Chem. 253: 6872–6878 (1978)
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1998 Springer Science+Business Media New York
About this chapter
Cite this chapter
Salerno, C. et al. (1998). Effect of D-Ribose Administration to a Patient with Inherited Deficit of Adenylosuccinase. In: Griesmacher, A., Müller, M.M., Chiba, P. (eds) Purine and Pyrimidine Metabolism in Man IX. Advances in Experimental Medicine and Biology, vol 431. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-5381-6_34
Download citation
DOI: https://doi.org/10.1007/978-1-4615-5381-6_34
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4613-7456-5
Online ISBN: 978-1-4615-5381-6
eBook Packages: Springer Book Archive