{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T12:45:24Z","timestamp":1777898724577,"version":"3.51.4"},"reference-count":26,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,5,22]],"date-time":"2022-05-22T00:00:00Z","timestamp":1653177600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Glycogen storage disease type Ib (GSD\u2010Ib) is a rare inborn error of glycogen metabolism uniquely associated with neutropenia and neutrophil dysfunction, causing severe infections, inflammatory bowel disease (IBD), and impaired wound healing. Recently, kidney sodium\u2010glucose co\u2010transporter\u20102 (SGLT2) inhibitors such as empagliflozin known to reduce plasma levels of 1,5\u2010anhydroglucitol (1,5\u2010AG) and its toxic derivatives in neutrophils, have been described as a new treatment option in case reports of patients with GSD\u2010Ib from Europe and Asia. We report our experience with an 11\u2010year\u2010old girl with GSD\u2010Ib presenting with short fasting hypoglycemia, neutropenia with neutrophil dysfunction, recurrent infections, suboptimal growth, iron\u2010deficiency anemia, and IBD. Treatment with daily empagliflozin improved neutrophil counts and function with a significant reduction in G\u2010CSF needs. Significant improvement in IBD has led to weight gain with improved nutritional markers and improved fasting tolerance. Reduction of maximum empagliflozin dose was needed due to arthralgia. No other significant side effects of empagliflozin were observed. This report uniquely highlights the novel use of untargeted metabolomics profiling for monitoring plasma levels of 1,5\u2010AG to assess empagliflozin dose responsiveness and guide dietary management and G\u2010CSF therapy. Clinical improvement correlated to rapid normalization of 1,5\u2010AG levels in plasma sustained after dose reduction. In conclusion, empagliflozin appeared to be a safe treatment option for GSD\u2010Ib\u2010associated neutropenia and neutrophil dysfunction. Global untargeted metabolomics is an efficient method to assess biochemical responsiveness to treatment.<\/jats:p>","DOI":"10.1002\/jmd2.12304","type":"journal-article","created":{"date-parts":[[2022,5,23]],"date-time":"2022-05-23T04:14:30Z","timestamp":1653279270000},"page":"309-315","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Untargeted metabolomic profiling in a patient with glycogen storage disease <scp>Ib<\/scp> receiving empagliflozin treatment"],"prefix":"10.1002","volume":"63","author":[{"given":"Eran","family":"Tallis","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cecile L.","family":"Karsenty","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Cancer and Hematology Centers  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda B.","family":"Grimes","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Cancer and Hematology Centers  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lina B.","family":"Karam","sequence":"additional","affiliation":[{"name":"Department of Pediatrics\u2010Gastroenterology Baylor College of Medicine  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah H.","family":"Elsea","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Baylor Genetics  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vernon Reed","family":"Sutton","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Baylor Genetics  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brandy L.","family":"Rawls\u2010Castillo","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ning","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Baylor Genetics  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0257-3684","authenticated-orcid":false,"given":"Claudia","family":"Soler\u2010Alfonso","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,5,22]]},"reference":[{"key":"e_1_2_14_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/1873-3468.13666"},{"key":"e_1_2_14_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9772-x"},{"key":"e_1_2_14_4_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2000.105232"},{"key":"e_1_2_14_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2002-10-3128"},{"key":"e_1_2_14_6_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-05-502435"},{"key":"e_1_2_14_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2010.189"},{"key":"e_1_2_14_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOH.0b013e328331df85"},{"key":"e_1_2_14_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2016.11.075"},{"key":"e_1_2_14_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1816143116"},{"key":"e_1_2_14_11_1","doi-asserted-by":"publisher","DOI":"10.3109\/00365519009085801"},{"key":"e_1_2_14_12_1","doi-asserted-by":"publisher","DOI":"10.2337\/dc13-0387"},{"key":"e_1_2_14_13_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2019004465"},{"key":"e_1_2_14_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01503-8"},{"key":"e_1_2_14_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/ped.14629"},{"key":"e_1_2_14_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-021-01100-w"},{"key":"e_1_2_14_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/jms.4292"},{"key":"e_1_2_14_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/jalm\/jfz026"},{"key":"e_1_2_14_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005176-199105000-00005"},{"key":"e_1_2_14_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/ajg.2010.143"},{"key":"e_1_2_14_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.128"},{"key":"e_1_2_14_22_1","unstructured":"FDA Empagliflozin Label. 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