Adenylosuccinase deficiency with neonatal onset severe epileptic seizures and sudden death

Neuropediatrics

Volumn 29, Issue 1, 1998, Pages 51-53

  Van Den Bergh, F A J T M ^a   Bosschaart, A N ^a   Hageman, G ^a   Duran, M ^b   Poll The, Bwee Tien ^b  

^a MEDISCH SPECTRUM TWENTE   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Adenylosuccinase deficiency; Purine metabolism; Succinyl purines; Sudden death

Indexed keywords

ADENYLOSUCCINATE LYASE; ANTICONVULSIVE AGENT; PHENOBARBITAL; PHENYTOIN; PURINE;

ARTICLE; CASE REPORT; ENZYME DEFICIENCY; FEVER; HUMAN; MALE; METABOLIC DISORDER; MUSCLE HYPOTONIA; PRIORITY JOURNAL; PURINE SYNTHESIS; SEIZURE; SUDDEN DEATH;

ADENOSINE; ADENYLOSUCCINATE LYASE; AMINOIMIDAZOLE CARBOXAMIDE; ANTICONVULSANTS; DEATH, SUDDEN; EPILEPSY; HUMANS; INFANT, NEWBORN; MALE; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS; RIBONUCLEOTIDES;

EID: 0031888699     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-973536     Document Type: Article

References (15)

1. Bergh, F. A. J. T. M. van den, Del Canho, H., Duran, M. Methylmalonic aciduria and sudden child death. J. Inher. Metab. Dis. 15, 897-898 (1992).
2. Bree, P. K. de, Wadman, S. K., Duran, M., Fabery de Jonge, H. Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines. Clin. Chim. Acta 156, 279-288 (1986).
3. Duran, M., Dorland, L., Wadman, S. K., Berger, R. Group tests for selective screening of inborn errors of metabolism. Eur. J. Pediatr. 153, 527-532 (1994).
4. Gennip, A. H. van, Abeling, N. G., Elzinga-Zoetekouw, L., Scholten, L. G., Cruchten, A. van, Bakker, H. D. Comparative study of thymine and uracil metabolism in healthy persons and in a patient with dihydropyrimidine dehydrogenase deficiency. Adv. Exp. Med. Biol. 253A, 111-118 (1989).
5. Harpey, J. P., Charpentier, C., Paturneau-Jouas, M. Sudden infant death syndrome and inherited disorders of fat metabolism (Letter). Lancet II, 1332 (1986).
6. Jaeken, J., Berghe, G. van den. An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids. Lancet II, 1058-1061 (1984).
7. Jaeken, J., Wadman, S. K., Daran, M., Sprang, F. J. van, Beemer, F. A., Holl, R. A., et al. Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis. Eur. J. Pediatr. 148, 126-131 (1988).
8. Jaeken, J., Bergh, F. van den, Vincent, M. F., Casaer, P., Berghe, G. van den. Adenylosuccinase deficiency: a newly recognized variant. J. Inher. Metab. Dis. 15, 416-418 (1992).
9. Klerk, J. B. C. de, Duran, M., Huijmans, J. G. M., Mancini, G. M. S. Sudden infant death and lysinuric protein intolerance. Eur. J. Pediatr. 155, 256-257 (1996).
10. Maaswinkel-Mooij, P. D., Laan, L. A. E. M., Onkenhout, W., Brouwer, O. F., Jaeken, J., Poorthuis, B. J. H. M. Adenylosuccinase deficiency presenting with epilepsy in early infancy. J. Inher. Metab. Dis. 20, 606-607 (1997).
11. Salerno, C., Crifo, C., Giardini, O. Adenylosuccinase deficiency: a patient with impaired erythrocyte activity and anomalous response to intravenous fructose. J. Inher. Metab. Dis. 18, 602-608 (1995).
12. Sebesta, I., Krijt, J., Kmoch, S., Hartmannova, H., Wojda, M., Zeman, J. Adenylosuccinase deficiency: Clinical and biochemical findings in 5 Czech patients. J. Inher. Metab. Dis. 20, 343-344 (1997).
13. Simmonds, H. A. Purine and pyrimidine disorders. In: Blau, N., Duran, M., Blaskovics, M. E. (Eds.): Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases. London, Chapman & Hall 341-357 (1996).
14. Slot, H. M. J., Overweg-Plandsoen, W. C. G., Bakker, H. D., Abeling, N. G. G. M., Tamminga, P., Barth, P. G., Gennip, A. H. van. Molybdenum-cofactor deficiency: an easily missed cause of neonatal convulsions. Neuropediatrics 24, 139-142 (1993).
15. Stone, R. L., Aimi, J., Barshop, B. A., Jaeken, J., Berghe, G. van den, Zaikin, H., Dixon, J. E. A mutation in adenylosuccinate lyase associated with mental retardation and autistic features. Nature Genetics 1, 59-63 (1992).