{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T09:10:45Z","timestamp":1789031445262,"version":"build-2803163510"},"reference-count":15,"publisher":"Walter de Gruyter GmbH","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2026-0274_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Classical galactosaemia (OMIM #230400) is an inborn error of carbohydrate metabolism caused by deficiency of the enzyme galactose-1-phosphate uridyl transferase (GALT).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2026-0274_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      We report a case of a female infant who presented with vomiting, failure to thrive, hepatic transaminitis and a discrepancy between point-of-care (POC) glucometer (Accu-chek\n                      <jats:sup>\u00ae<\/jats:sup>\n                      Inform II, Roche Diagnostics, Germany) and capillary blood glucose (ABL90 Flex Plus\n                      <jats:sup>\u00a9<\/jats:sup>\n                      blood gas analyser) testing results, raising the suspicion for a diagnosis of classical galactosaemia. This was attributed to suspected analytical interference from markedly elevated blood galactose, due to a known limitation of the POC glucometer specificity for the monosaccharide sugars glucose and galactose. This led to falsely elevated glucose readings on POC glucometer testing in the presence of a high galactose concentration. Reduced GALT enzyme activity and genetic testing subsequently confirmed a diagnosis of classical galactosaemia.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2026-0274_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Identification of discrepancies in certain POC glucometers and capillary blood gas or venous glucose measurements by the clinical biochemistry laboratory may indicate POC glucometer interference and raise suspicion for a diagnosis of classical galactosaemia in the newborn setting.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2026-0274","type":"journal-article","created":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T08:55:45Z","timestamp":1789030545000},"source":"Crossref","is-referenced-by-count":0,"title":["Not all sugars are equal: galactose interference leading to false hyperglycaemia in a case of classical galactosaemia"],"prefix":"10.1515","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-0419-2326","authenticated-orcid":false,"given":"Sophie","family":"Manoy","sequence":"first","affiliation":[{"name":"Queensland Lifespan Metabolic Medicine Service , Queensland Children\u2019s Hospital , Brisbane , Australia"},{"name":"Department of Inherited Metabolic Disease , Evelina London Children\u2019s Hospital , London , England"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Crook","sequence":"additional","affiliation":[{"name":"Biochemical Genetics , Synnovis Group LLP , London , England"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"Gaughan","sequence":"additional","affiliation":[{"name":"Department of Inherited Metabolic Disease , Evelina London Children\u2019s Hospital , London , England"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roshni","family":"Vara","sequence":"additional","affiliation":[{"name":"Department of Inherited Metabolic Disease , Evelina London Children\u2019s Hospital , London , England"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angharad","family":"Flower","sequence":"additional","affiliation":[{"name":"Department of Neonatology , Croydon University Hospital , London , England"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taiwo","family":"Oladimeji","sequence":"additional","affiliation":[{"name":"Department of Neonatology , Croydon University Hospital , London , England"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caralyn","family":"Jarvis","sequence":"additional","affiliation":[{"name":"Department of Neonatology , Croydon University Hospital , London , England"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam","family":"Pope","sequence":"additional","affiliation":[{"name":"Department of Neonatology , Croydon University Hospital , London , England"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dinusha","family":"Pandithan","sequence":"additional","affiliation":[{"name":"Department of Inherited Metabolic Disease , Evelina London Children\u2019s Hospital , London , England"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,9,11]]},"reference":[{"key":"2026091008554096601_j_jpem-2026-0274_ref_001","doi-asserted-by":"crossref","unstructured":"Succoio, M, Sacchettini, R, Rossi, A, Parenti, G, Ruoppolo, M. Galactosemia: biochemistry, molecular genetics, newborn screening, and treatment. Biomolecules 2022;12:968. https:\/\/doi.org\/10.3390\/biom12070968.","DOI":"10.3390\/biom12070968"},{"key":"2026091008554096601_j_jpem-2026-0274_ref_002","unstructured":"Berry, GT. Classic galactosemia and clinical variant galactosemia. In: Adam, MP, Bick, SL, Mirzaa, GM, Pagon, RA, Wallace, SE, Amemiya, A, editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 2000."},{"key":"2026091008554096601_j_jpem-2026-0274_ref_003","doi-asserted-by":"crossref","unstructured":"Delnoy, B, Coelho, AI, Rubio-Gozalbo, ME. Current and future treatments for classic galactosemia. J\u00a0Pers Med 2021;11:75. https:\/\/doi.org\/10.3390\/jpm11020075.","DOI":"10.3390\/jpm11020075"},{"key":"2026091008554096601_j_jpem-2026-0274_ref_004","doi-asserted-by":"crossref","unstructured":"Cerone, J, Rios, A. Galactosemia. Pediatr Rev 2019;40:24\u20137. https:\/\/doi.org\/10.1542\/pir.2018-0150.","DOI":"10.1542\/pir.2018-0150"},{"key":"2026091008554096601_j_jpem-2026-0274_ref_005","doi-asserted-by":"crossref","unstructured":"Newman, JD, Ramsden, CA, Balazs, ND. Monitoring neonatal hypoglycemia with the accu-chek advantage II glucose meter: the cautionary tale of galactosemia. Clin Chem 2002;48:2071. https:\/\/doi.org\/10.1093\/clinchem\/48.11.2071.","DOI":"10.1093\/clinchem\/48.11.2071"},{"key":"2026091008554096601_j_jpem-2026-0274_ref_006","unstructured":"Beutler, E, Mitchell, M. New rapid method for the estimation of red cell galactose-1-phosphate uridyl transferase activity. J\u00a0Lab Clin Med 1968;72:527\u201332."},{"key":"2026091008554096601_j_jpem-2026-0274_ref_007","doi-asserted-by":"crossref","unstructured":"Welling, L, Bernstein, LE, Berry, GT, Burlina, AB, Eyskens, F, Gautschi, M, et al.. International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. J\u00a0Inherit Metab Dis 2017;40:171\u20136. https:\/\/doi.org\/10.1007\/s10545-016-9990-5.","DOI":"10.1007\/s10545-016-9990-5"},{"key":"2026091008554096601_j_jpem-2026-0274_ref_008","doi-asserted-by":"crossref","unstructured":"Ceriotti, F, Kaczmarek, E, Guerra, E, Mastrantonio, F, Lucarelli, F, Valgimigli, F, et al.. Comparative performance assessment of point-of-care testing devices for measuring glucose and ketones at the patient bedside. J\u00a0Diabetes Sci Technol 2015;9:268\u201377. https:\/\/doi.org\/10.1177\/1932296814563351.","DOI":"10.1177\/1932296814563351"},{"key":"2026091008554096601_j_jpem-2026-0274_ref_009","doi-asserted-by":"crossref","unstructured":"Xu, NY, Nguyen, KT, Mehta, C, Klonoff, DC. Antioxidant-induced pseudohyperglycemia due to interference of measurements by blood glucose monitors. J\u00a0Diabetes Sci Technol 2021;15:1404\u20135. https:\/\/doi.org\/10.1177\/19322968211041328.","DOI":"10.1177\/19322968211041328"},{"key":"2026091008554096601_j_jpem-2026-0274_ref_010","doi-asserted-by":"crossref","unstructured":"Christoph, J, Malic, A, Sander, J, Kattner, E. 1041\u00a0galactose-interference on poct glucose analysis. Pediatr Res 2010;68:517\u20138. https:\/\/doi.org\/10.1203\/00006450-201011001-01041.","DOI":"10.1203\/00006450-201011001-01041"},{"key":"2026091008554096601_j_jpem-2026-0274_ref_011","doi-asserted-by":"crossref","unstructured":"\u00d6zbek, MN, \u00d6cal, M, Tanr\u0131verdi, S, Baysal, B, Deniz, A, \u00d6ncel, K, et al.. Capillary bedside blood glucose measurement in neonates: missing a diagnosis of galactosemia. J\u00a0Clin Res Pediatr Endocrinol 2015;7:83\u20135. https:\/\/doi.org\/10.4274\/jcrpe.1805.","DOI":"10.4274\/jcrpe.1805"},{"key":"2026091008554096601_j_jpem-2026-0274_ref_012","doi-asserted-by":"crossref","unstructured":"Decru, B, Blanckaert, H, Naulaers, G, Vanhole, C, Rymen, D, Witters, P, et al.. Pseudohyperglycemia due to glucometer interference in galactosemia. Clin Chem Lab Med 2024;62:e107\u20139. https:\/\/doi.org\/10.1515\/cclm-2023-1304.","DOI":"10.1515\/cclm-2023-1304"},{"key":"2026091008554096601_j_jpem-2026-0274_ref_013","doi-asserted-by":"crossref","unstructured":"Schleis, TG. Interference of maltose, icodextrin, galactose, or xylose with some blood glucose monitoring systems. Pharmacotherapy 2007;27:1313\u201321. https:\/\/doi.org\/10.1592\/phco.27.9.1313.","DOI":"10.1592\/phco.27.9.1313"},{"key":"2026091008554096601_j_jpem-2026-0274_ref_014","doi-asserted-by":"crossref","unstructured":"Kirrane, BM, Duthie, EA, Nelson, LS. Unrecognized hypoglycemia due to maltodextrin interference with bedside glucometry. J\u00a0Med Toxicol 2009;5:20\u20133. https:\/\/doi.org\/10.1007\/bf03160976.","DOI":"10.1007\/BF03160976"},{"key":"2026091008554096601_j_jpem-2026-0274_ref_015","doi-asserted-by":"crossref","unstructured":"Chakraborty, PP, Patra, S, Bhattacharjee, R, Chowdhury, S. Erroneously elevated glucose values due to maltose interference in mutant glucose dehydrogenase pyrroloquinolinequinone (mutant GDH-PQQ) based glucometer. BMJ Case Rep 2017;2017. https:\/\/doi.org\/10.1136\/bcr-2017-219928.","DOI":"10.1136\/bcr-2017-219928"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/jpem-2026-0274\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/jpem-2026-0274\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T08:55:53Z","timestamp":1789030553000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/jpem-2026-0274\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,11]]},"references-count":15,"alternative-id":["10.1515\/jpem-2026-0274"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2026-0274","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"value":"0334-018X","type":"print"},{"value":"2191-0251","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,11]]}}}