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Adenylosuccinase Deficiency - a Newly Recognized Variant

Bibliographic reference Jaeken, J. ; Vandenbergh, F. ; Vincent, Marie-Françoise ; Casaer, P. ; Van den Berghe, Georges. Adenylosuccinase Deficiency - a Newly Recognized Variant. In: Journal of Inherited Metabolic Disease, Vol. 15, no. 3, p. 416-418 (1992)
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  1. de Bree PK, Wadman SK, Duran M, Fabery de Jonghe H (1986) 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.
  2. Jaeken J, Van den Berghe G (1984) An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids.Lancet 2: 1058–1061.
  3. Jaeken J, Van den Berghe G (1989) Screening for inborn errors of purine synthesis.Lancet 1: 500.
  4. Jaeken J, Wadman SK, Duran M et al (1988) Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis.Eur J Pediatr 148: 126–133.
  5. Laikind PK, Seegmiller JE, Gruber HE (1986) Detection of 5′-phosphoribosyl-4-(N-succinyl-carboxamide)-5-aminoimidazole in urine by use of the Bratton-Marshall reaction: identification of patients deficient in adenylosuccinate lyase activity.Anal Biochem 156: 81–90.
  6. Van den Berghe G, Jaeken J (1986) Use of the Bratton-Marshall test for the diagnosis of adenylosuccinase deficiency (in Dutch).Versl Belg Ver Kindergen 18: 42–46.
  7. Van den Berg F, Vincent MF, Jaeken J, Van den Berghe G (1991) Radiochemical assay of adenylosuccinase: demonstration of parallel loss of activity toward both adenylosuccinate and succinylaminoimidazole carboxamide ribotide in liver of patients with the enzyme defect.Anal Biochem 193: 287–291.