{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T21:51:44Z","timestamp":1790805104028,"version":"4.1.0"},"reference-count":35,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,11,3]],"date-time":"2020-11-03T00:00:00Z","timestamp":1604361600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100013220","name":"Ultragenyx Pharmaceutical","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013220","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012638","name":"Valerion Therapeutics","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012638","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aim<\/jats:title><jats:p>The urinary glucose tetrasaccharide, Glc\u03b11\u20106Glc\u03b11\u20104Glc\u03b11\u20104Glc (Glc<jats:sub>4<\/jats:sub>), is a glycogen limit dextrin that is elevated in patients with glycogen storage disease (GSD) type III. We evaluated the potential of uncooked cornstarch therapy to interfere with Glc<jats:sub>4<\/jats:sub> monitoring, by measuring the diurnal variability of Glc<jats:sub>4<\/jats:sub> excretion in patients with GSD III.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Voids were collected at home over 24 hours, stored at 4\u00b0C and frozen within 48\u2009hours. Glc<jats:sub>4<\/jats:sub> was analyzed using liquid chromatography\u2010tandem mass spectrometry and normalized to creatinine.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Subjects with GSD III (median age: 13.5\u2009years, range: 3.7\u201062; n = 18) completed one or more 24\u2010hour urine collection, and 28\/36 collections were accepted for analysis. Glc<jats:sub>4<\/jats:sub> was elevated in 16\/18 subjects (median: 13\u2009mmol\/mol creatinine, range: 2\u201075, reference range: &lt;3). In collections with elevated Glc<jats:sub>4<\/jats:sub> (23\/28), two\u2010thirds (15\/23) had low diurnal variability in Glc<jats:sub>4<\/jats:sub> excretion (coefficient of variation [CV%] &lt;25). The diurnal variability was significantly correlated with the Glc<jats:sub>4<\/jats:sub> concentration (Pearson <jats:italic>R<\/jats:italic> =\u2009.644, <jats:italic>P<\/jats:italic> &lt;\u2009.05), but not with the dose of uncooked cornstarch. High intraday variability (&gt;25%) was not consistently observed in repeat collections by the same subject.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The extent and variability of Glc<jats:sub>4<\/jats:sub> excretion relative to creatinine was not correlated with cornstarch dose. A majority of collections showed low variability over 24\u2009hours. These findings support the use of single time\u2010point collections to evaluate Glc<jats:sub>4<\/jats:sub> in patients with GSD III treated with cornstarch. However, repeat sampling over short time\u2010periods will provide the most accurate assessment of Glc<jats:sub>4<\/jats:sub> excretion, as intraday variability may be increased in patients with high Glc<jats:sub>4<\/jats:sub> excretion.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jmd2.12181","type":"journal-article","created":{"date-parts":[[2020,11,4]],"date-time":"2020-11-04T01:49:50Z","timestamp":1604454590000},"page":"37-43","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Diurnal variability of glucose tetrasaccharide (Glc<sub>4<\/sub>) excretion in patients with glycogen storage disease type <scp>III<\/scp>"],"prefix":"10.1002","volume":"58","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7671-016X","authenticated-orcid":false,"given":"Sarah P.","family":"Young","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Duke University School of Medicine  Durham North 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USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghada","family":"Hijazi","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Duke University School of Medicine  Durham North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Austin","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Duke University School of Medicine  Durham North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priya S.","family":"Kishnani","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Duke University School of Medicine  Durham North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,11,3]]},"reference":[{"key":"e_1_2_11_2_1","first-page":"1521","volume-title":"The Metabolic and Molecular 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