{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T06:41:59Z","timestamp":1785825719671,"version":"3.56.0"},"reference-count":34,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[1997,6,1]],"date-time":"1997-06-01T00:00:00Z","timestamp":865123200000},"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":[[1997,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Adenylosuccinase catalyses two reactions in purine metabolism: the conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) into amino\u2010imidazole carboxamide ribotide (AICAR) along the de novo synthesis of purine nucleotides, and the conversion of adenylosuccinate (S\u2010AMP) into AMP in the conversion of IMP into AMP. The hallmarks of adenylosuccinase deficiency are the presence of succinylaminoimidazole carboxamide riboside (SAICAriboside) and succinyladenosine (S\u2010Ado) in body fluids. These normally undetectable succinyl\u2010purines are the products of the dephosphorylation, by cytosolic 5\u2032\u2010nucleotidase, of the two substrates of adenylosuccinase. The clinical picture of the enzyme deficiency is markedly heterogeneous with, as a rule, a profound, but nevertheless variable degree of psychomotor delay, often convulsions and\/or autistic features, sometimes growth retardation and muscular dystrophy. The diagnostic tests that can be used for diagnosis, the enzyme and gene defects that have been identified, and the hypotheses that have been put forward to explain the pathophysiology of the disorder are reviewed.<\/jats:p>","DOI":"10.1023\/a:1005304722259","type":"journal-article","created":{"date-parts":[[2002,12,21]],"date-time":"2002-12-21T21:48:34Z","timestamp":1040507314000},"page":"193-202","source":"Crossref","is-referenced-by-count":67,"title":["Inborn errors of the purine nucleotide cycle: Adenylosuccinase deficiency"],"prefix":"10.1002","volume":"20","author":[{"given":"G.","family":"Van den Berghe","sequence":"first","affiliation":[{"name":"Laboratory of Physiological Chemistry International Institute of Cellular and Molecular Pathology  UCL 7539 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 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"}]}],"member":"311","published-online":{"date-parts":[[1997,6]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)38804-0"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0167-4838(89)90023-X"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)73708-3"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(86)90071-9"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198808000-00020"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00710417"},{"key":"e_1_2_1_8_1","first-page":"150","volume-title":"Annual Meeting of SSIEM","author":"Dorland L","year":"1986"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0074-7742(08)60556-5"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/elps.11501601318"},{"key":"e_1_2_1_11_1","first-page":"1048","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_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00445919"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02435992"},{"issue":"1","key":"e_1_2_1_14_1","first-page":"13","article-title":"Adenylosuccinase deficiency \u2014 identification of a new disease causing mutation","volume":"19","author":"Kmoch S","year":"1996","journal-title":"J Inher Metab Dis"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4615-2584-4_79"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(86)90158-2"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4684-1248-2_57"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.1972.52.2.382"},{"issue":"1","key":"e_1_2_1_19_1","first-page":"12","article-title":"Epileptic seizures as presenting symptom in adenylosuccinase deficiency","volume":"19","author":"Maaswinkel\u2010Mooij PD","year":"1996","journal-title":"J Inher Metab Dis"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(89)91172-0"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)88943-8"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02436005"},{"issue":"1","key":"e_1_2_1_23_1","first-page":"2","article-title":"Adenylosuccinase deficiency \u2014 clinical and biochemical findings in 5 Czech patients","volume":"19","author":"Sebesta I","year":"1996","journal-title":"J Inher Metab Dis"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI112255"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0492-59"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)36573-1"},{"issue":"1","key":"e_1_2_1_27_1","first-page":"11","article-title":"Clinical and biochemical findings in a first North American case of adenylosuccinase deficiency","volume":"19","author":"Valik D","year":"1996","journal-title":"J Inher Metab Dis"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(91)90023-M"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00710291"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00710293"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4684-5104-7_4"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/0301-0082(92)90006-Z"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132358"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4684-5676-9_65"},{"key":"e_1_2_1_35_1","doi-asserted-by":"publisher","DOI":"10.2337\/diab.40.10.1259"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FA%3A1005304722259","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/A%3A1005304722259","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T02:59:42Z","timestamp":1694746782000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/A%3A1005304722259"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,6]]},"references-count":34,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1997,6]]}},"alternative-id":["10.1023\/A:1005304722259"],"URL":"https:\/\/doi.org\/10.1023\/a:1005304722259","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,6]]}}}