{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T14:24:46Z","timestamp":1780064686098,"version":"3.54.0"},"reference-count":23,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2013,8,13]],"date-time":"2013-08-13T00:00:00Z","timestamp":1376352000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2013,11]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>The aim of this study was to develop a high\u2010throughput urine screening technique for adenylosuccinate lyase (<jats:styled-content style=\"fixed-case\">ADSL<\/jats:styled-content>) deficiency and to evaluate <jats:italic>S<\/jats:italic>\u2010adenosyl\u2010<jats:sc>l<\/jats:sc>\u2010methionine (<jats:styled-content style=\"fixed-case\">SAM<\/jats:styled-content>e) as a potential treatment for this disorder.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Testing for succinyladenosine (S\u2010Ado), a marker of <jats:styled-content style=\"fixed-case\">ADSL<\/jats:styled-content> deficiency, was incorporated into a screening panel for urine biomarkers for inborn errors of metabolism using electrospray tandem mass spectrometry. Liquid chromatography\u2013mass spectrometry and high\u2010performance liquid chromatography were used to confirm and monitor the response of metabolites to oral <jats:styled-content style=\"fixed-case\">SAM<\/jats:styled-content>e treatment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Increased levels of S\u2010Ado were detected in a 3\u2010month\u2010old male infant with hypotonia and seizures. <jats:italic><jats:styled-content style=\"fixed-case\">ADSL<\/jats:styled-content><\/jats:italic> gene sequencing revealed a previously described c.\u201349T&gt;C mutation and a novel c.889_891dup<jats:styled-content style=\"fixed-case\">AAT<\/jats:styled-content> mutation, which was likely to disrupt enzyme function. After 9\u00a0months of <jats:styled-content style=\"fixed-case\">SAM<\/jats:styled-content>e treatment, there was no clear response evidenced in urine metabolite levels or clinical parameters.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>These results demonstrate proof of the principle for the high\u2010throughput urine screening technique, allowing earlier diagnosis of patients with <jats:styled-content style=\"fixed-case\">ADSL<\/jats:styled-content> deficiency. However, early treatment with <jats:styled-content style=\"fixed-case\">SAM<\/jats:styled-content>e does not appear to be effective in <jats:styled-content style=\"fixed-case\">ADSL<\/jats:styled-content> deficiency. It is suggested that although <jats:styled-content style=\"fixed-case\">SAM<\/jats:styled-content>e treatment may ameliorate purine nucleotide deficiency, it cannot correct metabolic syndromes in which a toxic nucleotide is present, in this case presumed to be succinylaminoimidazole carboxamide ribotide.<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.12244","type":"journal-article","created":{"date-parts":[[2013,8,13]],"date-time":"2013-08-13T08:28:12Z","timestamp":1376382492000},"page":"1060-1064","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Early diagnosis of adenylosuccinate lyase deficiency using a high\u2010throughput screening method and a trial of oral <i>S<\/i>\u2010adenosyl\u2010<scp>l<\/scp>\u2010methionine as a treatment method"],"prefix":"10.1111","volume":"55","author":[{"given":"Michiel A","family":"van Werkhoven","sequence":"first","affiliation":[{"name":"Victorian Clinical Genetics Services Murdoch Childrens Research Institute The Royal Children's Hospital Melbourne Vic. Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John A","family":"Duley","sequence":"additional","affiliation":[{"name":"School of Pharmacy The University of Queensland and Mater Medical Research Institute Brisbane Qld Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivan","family":"McGown","sequence":"additional","affiliation":[{"name":"Mater Health Services Brisbane Qld Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Munce","sequence":"additional","affiliation":[{"name":"Mater Health Services Brisbane Qld Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy L","family":"Freeman","sequence":"additional","affiliation":[{"name":"Department of Neurology and Murdoch Childrens Research Institute The Royal Children's Hospital Melbourne Vic. Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James J","family":"Pitt","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services Murdoch Childrens Research Institute The Royal Children's Hospital Melbourne Vic. 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