{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T20:03:01Z","timestamp":1790798581506,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002301","name":"Eesti Teadusagentuur","doi-asserted-by":"publisher","award":["PRG471"],"award-info":[{"award-number":["PRG471"]}],"id":[{"id":"10.13039\/501100002301","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014607","name":"RCH Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014607","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100016062","name":"Stichting Metakids","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100016062","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital disorders of glycosylation (CDG) are a clinically and biochemically heterogeneous subgroup of inherited metabolic disorders. Most CDG with abnormal N\u2010glycosylation can be detected by transferrin screening, however, MOGS\u2010CDG escapes this routine screening. Combined with the clinical heterogeneity of reported cases, diagnosing MOGS\u2010CDG can be challenging. Here, we clinically characterize ten MOGS\u2010CDG cases including six previously unreported individuals, showing a phenotype characterized by dysmorphic features, global developmental delay, muscular hypotonia, and seizures in all patients and in a minority vision problems and hypogammaglobulinemia. Glycomics confirmed accumulation of a Glc<jats:sub>3<\/jats:sub>Man<jats:sub>7<\/jats:sub>GlcNAc<jats:sub>2<\/jats:sub> glycan in plasma. For quantification of the diagnostic Glc\u03b11\u20103Glc\u03b11\u20103Glc\u03b11\u20102Man tetrasaccharide in urine, we developed and validated a liquid chromatography\u2010mass spectrometry method of 2\u2010aminobenzoic acid (2AA) labeled urinary glycans. As an internal standard, isotopically labeled <jats:sup>13<\/jats:sup>C<jats:sub>6<\/jats:sub>\u20102AA Glc<jats:sub>3<\/jats:sub>Man was used, while labeling efficiency was controlled by use of <jats:sup>12<\/jats:sup>C<jats:sub>6<\/jats:sub>\u20102AA and <jats:sup>13<\/jats:sup>C<jats:sub>6<\/jats:sub>\u20102AA labeled laminaritetraose. Recovery, linearity, intra\u2010 and interassay coefficients of variability of these labeled compounds were determined. Furthermore, Glc<jats:sub>3<\/jats:sub>Man was specifically identified by retention time matching against authentic MOGS\u2010CDG urine and compared with Pompe urine. Glc<jats:sub>3<\/jats:sub>Man was increased in all six analyzed cases, ranging from 34.1 to 618.0\u00a0\u03bcmol\/mmol creatinine (reference &lt;5\u00a0\u03bcmol). In short, MOGS\u2010CDG has a broad manifestation of symptoms but can be diagnosed with the use of a quantitative method for analysis of urinary Glc<jats:sub>3<\/jats:sub>Man excretion.<\/jats:p>","DOI":"10.1002\/jimd.12588","type":"journal-article","created":{"date-parts":[[2023,1,18]],"date-time":"2023-01-18T12:00:11Z","timestamp":1674043211000},"page":"313-325","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["<scp>MOGS\u2010<\/scp>CDG: Quantitative analysis of the diagnostic <scp>Glc<sub>3<\/sub>Man<\/scp> tetrasaccharide and clinical spectrum of six new cases"],"prefix":"10.1002","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7433-9048","authenticated-orcid":false,"given":"Merel A.","family":"Post","sequence":"first","affiliation":[{"name":"Department of Neurology, Donders institute for Brain, Cognition and Behavior Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isis","family":"de Wit","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Amalia Children's Hospital Radboud University Medical Center  Nijmegen The Netherlands"},{"name":"On behalf of United for Metabolic Diseases  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fokje S. M.","family":"Zijlstra","sequence":"additional","affiliation":[{"name":"Translational Metabolic Laboratory, Department of Laboratory Medicine Radboud Institute for Molecular Life Sciences, Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0980-238X","authenticated-orcid":false,"given":"Udo F. H.","family":"Engelke","sequence":"additional","affiliation":[{"name":"Translational Metabolic Laboratory, Department of Laboratory Medicine Radboud Institute for Molecular Life Sciences, Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arno","family":"van Rooij","sequence":"additional","affiliation":[{"name":"Translational Metabolic Laboratory, Department of Laboratory Medicine Radboud Institute for Molecular Life Sciences, Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8431-0641","authenticated-orcid":false,"given":"John","family":"Christodoulou","sequence":"additional","affiliation":[{"name":"Genomic Medicine Research Theme Murdoch Children's Research Institute and Department of Pediatrics, University of Melbourne  Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiong Yang","family":"Tan","sequence":"additional","affiliation":[{"name":"Genomic Medicine Research Theme Murdoch Children's Research Institute and Department of Pediatrics, University of Melbourne  Melbourne Australia"},{"name":"Victorian Clinical Genetics Services Murdoch Children's Research Institute  Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5843-9516","authenticated-orcid":false,"given":"Anna","family":"Le Fevre","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services Murdoch Children's Research Institute  Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danqun","family":"Jin","sequence":"additional","affiliation":[{"name":"Pediatric Intensive Care Unit, Anhui Provincial Children's Hospital  Hefei China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6158-6215","authenticated-orcid":false,"given":"Joy","family":"Yaplito\u2010Lee","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services Murdoch Children's Research Institute  Melbourne Australia"},{"name":"Department of Metabolic Medicine The Royal Children's Hospital Melbourne  Parkville Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beom Hee","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Asan Medical Center Children's Hospital, University of Ulsan College of Medicine  Seoul South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen J.","family":"Low","sequence":"additional","affiliation":[{"name":"School of Clinical Sciences University of Bristol  Bristol UK"},{"name":"Clinical Genetics St. Michael's Hospital, University Hospitals NHS Trust  Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5882-8076","authenticated-orcid":false,"given":"Andrew A.","family":"Mallick","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Bristol Royal Hospital for Children  Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrin","family":"\u00d5unap","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Genetics and Personalized Medicine Clinic Tartu University Hospital  Tartu Estonia"},{"name":"Department of Clinical Genetics Institute of Clinical Medicine, University of Tartu  Tartu Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Pitt","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services Murdoch Children's Research Institute  Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William","family":"Reardon","sequence":"additional","affiliation":[{"name":"Clinical Genetics Children's Health Ireland (CHI)  Crumlin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mari\u2010Anne","family":"Vals","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Institute of Clinical Medicine, University of Tartu  Tartu Estonia"},{"name":"Children's Clinic, Tartu University Hospital  Tartu Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saskia B.","family":"Wortmann","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Amalia Children's Hospital Radboud University Medical Center  Nijmegen The Netherlands"},{"name":"University Children's Hospital, Paracelsus Medical University  Salzburg Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5957-3127","authenticated-orcid":false,"given":"Hans J. 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