{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T02:16:09Z","timestamp":1789179369027,"version":"build-2803163510"},"reference-count":19,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[1993,3,1]],"date-time":"1993-03-01T00:00:00Z","timestamp":730944000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1993,3]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Adenylosuccinase (ASase) catalyses both the conversion of succinylaminoimidazole carboxamide ribotide (succinyl\u2010AICAR) into AICAR and that of adenylosuccinate into AMP in the synthesis of purine nucleotides. Its deficiency results in the accumulation in body fluids of the nucleosides corresponding to both substrates, succinyl\u2010AICAriboside and succinyladenosine. Two main subtypes of the defect are type I with severe mental retardation and succinyladenosine\/succinyl\u2010AICAriboside ratios around 1, and type II with slight mental delay and succinyladenosine\/succinyl\u2010AICAriboside ratios around 4. We report that in fibroblasts of type I patients, the activity of ASase with both adenylosuccinate and succinyl\u2010AICAR is about 30% of normal. In contrast, in type II fibroblasts, the activity with adenylosuccinate is only 3% of normal, whereas that with succinyl\u2010AICAR is also 30% of normal. If also present in other tissues, this non\u2010parallel deficiency provides an explanation for the higher concentration of succinyladenosine in type II. In type I fibroblasts, ASase is further characterized mainly by a 3\u2010fold to 4\u2010fold increase in<jats:italic>K<\/jats:italic><jats:sub>m<\/jats:sub> for succinyl\u2010AICAR, and by retarded elution from an anion exchanger. In type II fibroblasts, ASase is characterized by a similar increase in<jats:italic>K<\/jats:italic><jats:sub>m<\/jats:sub> for succinyl\u2010AICAR but by a potent inhibition by KCl and nucleoside triphosphates, and by a normal elution profile. These results suggest a modification of the surface charge of ASase in type I, and the addition of one or more positively charged residues in the active site in type II.<\/jats:p>","DOI":"10.1007\/bf00710291","type":"journal-article","created":{"date-parts":[[2004,12,1]],"date-time":"2004-12-01T12:15:16Z","timestamp":1101903316000},"page":"415-424","source":"Crossref","is-referenced-by-count":37,"title":["Residual adenylosuccinase activities in fibroblasts of adenylosuccinase\u2010deficient children: Parallel deficiency with adenylosuccinate and succinyl\u2010AICAR in profoundly retarded patients and non\u2010parallel deficiency in a mildly retarded girl"],"prefix":"10.1002","volume":"16","author":[{"given":"F.","family":"Van den Bergh","sequence":"first","affiliation":[{"name":"Laboratory of Physiological Chemistry International Institute of Cellular and Molecular Pathology, UCL 7539  Avenue Hippocrate 75 Brussels B\u20101200 Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. F.","family":"Vincent","sequence":"additional","affiliation":[{"name":"Laboratory of Physiological Chemistry International Institute of Cellular and Molecular Pathology, UCL 7539  Avenue Hippocrate 75 Brussels B\u20101200 Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Jaeken","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Leuven  Leuven B\u20103000 Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Van den Berghe","sequence":"additional","affiliation":[{"name":"Laboratory of Physiological Chemistry International Institute of Cellular and Molecular Pathology, UCL 7539  Avenue Hippocrate 75 Brussels B\u20101200 Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1993,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0167-4838(89)90023-X"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(17)38001-8"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2460263"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1139\/o64-084"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.43.4.305"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1128\/jb.78.3.320-325.1959"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.43.9.826"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1874-6047(08)60447-3"},{"key":"e_1_2_1_10_1","first-page":"1058","article-title":"An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids","volume":"2","author":"Jaeken J","year":"1984","journal-title":"Lancet"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00445919"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4684-1248-2_57"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1021\/ja01563a072"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)69930-2"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01538958"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0492-59"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00484561"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(91)90023-M"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4615-7703-4_62"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4684-5104-7_4"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF00710291","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T16:30:46Z","timestamp":1694795446000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF00710291"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,3]]},"references-count":19,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1993,3]]}},"alternative-id":["10.1007\/BF00710291"],"URL":"https:\/\/doi.org\/10.1007\/bf00710291","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,3]]}}}