{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T20:04:21Z","timestamp":1790798661612,"version":"4.1.0"},"reference-count":10,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,6,22]],"date-time":"2021-06-22T00:00:00Z","timestamp":1624320000000},"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":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Phosphoglucomutase 1 (PGM1) catalyzes the interconversion of glucose\u20106\u2010phosphate to glucose\u20101\u2010phosphate and is a key enzyme of glycolysis, glycogenesis, and glycogenolysis. PGM1 deficiency (OMIM: 614921) was initially defined as a glycogen storage disorder (type XIV), and later re\u2010classified as a PGM1\u2010congenital disorder of glycosylation (PGM1\u2010CDG). Serum transferrin (Tf) glycan isoform analysis by liquid chromatography\u2010mass spectrometry (LC\u2010MS) is used as a primary diagnostic screen tool, and reveals a very unique CDG profile described as a mixture of CDG\u2010type I and CDG\u2010type II patterns. Oral <jats:sc>d<\/jats:sc>\u2010galactose supplementation shows significant clinical and metabolic improvements, which are indicated by the Tf glycan isoform normalization over time in patients with PGM1\u2010CDG. Thus, there is a need for biomarkers to guide <jats:sc>d<\/jats:sc>\u2010galactose dosage in patients in order to maintain effective and safe drug levels. Here, we present a simplified algorithm called PGM1\u2010CDG Treatment Monitoring Index (PGM1\u2010TMI) for assessing the response of PGM1\u2010CDG patients to <jats:sc>d<\/jats:sc>\u2010galactose supplementation. For our single\u2010center cohort of 16 PGM1\u2010CDG patients, the Tf glycan profile analysis provided the biochemical diagnosis in all of them. In addition, the PGM1\u2010TMI was reduced in PGM1\u2010CDG patients under <jats:sc>d<\/jats:sc>\u2010galactose supplementation as compared with their corresponding values before treatment, indicating that glycosylation proceeds towards normalization. PGM1\u2010TMI allows tracking Tf glycan isoform normalization over time when the patients are on <jats:sc>d<\/jats:sc>\u2010galactose supplementation.<\/jats:p>","DOI":"10.1002\/jimd.12406","type":"journal-article","created":{"date-parts":[[2021,5,27]],"date-time":"2021-05-27T14:38:50Z","timestamp":1622126330000},"page":"1263-1271","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["A new <scp>D\u2010galactose<\/scp> treatment monitoring index for <scp>PGM1\u2010CDG<\/scp>"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6333-4070","authenticated-orcid":false,"given":"Ester","family":"Perales\u2010Clemente","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Biochemical Genetics Laboratory, Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristen","family":"Liedtke","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Biochemical Genetics Laboratory, Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"April","family":"Studinski","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Biochemical Genetics Laboratory, Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Radenkovic","sequence":"additional","affiliation":[{"name":"Katholieke Universiteit Leuven, VIB Center for Cancer Biology  Leuven Belgium"},{"name":"Laboratory of Hepatology, Department CHROMETA, KU  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dimitar","family":"Gavrilov","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Biochemical Genetics Laboratory, Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Devin","family":"Oglesbee","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Biochemical Genetics Laboratory, Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dietrich","family":"Matern","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Biochemical Genetics Laboratory, Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piero","family":"Rinaldo","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Biochemical Genetics Laboratory, Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Tortorelli","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Biochemical Genetics Laboratory, Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Morava","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Biochemical Genetics Laboratory, Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Clinical Genomics Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimiyo","family":"Raymond","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Biochemical Genetics Laboratory, Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,6,22]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.10.012"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M114.597914"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9525-7"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc0901158"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1206605"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds123"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12286"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.03.003"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.41"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.trsl.2018.04.008"}],"container-title":["Journal 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