{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T12:49:23Z","timestamp":1788266963240,"version":"build-2803163510"},"reference-count":15,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2025,9,5]],"date-time":"2025-09-05T00:00:00Z","timestamp":1757030400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Reports"],"abstract":"<jats:p>A 4-month-old male child was admitted with failure to thrive, persistent osmotic diarrhea, and presence of multiple metabolic abnormalities, which included hypertriglyceridemia, hypercholesterolemia, hypercalcemia, and medullary nephrocalcinosis. He was diagnosed with congenital glucose\u2013galactose malabsorption (CGGM). The exome analysis showed presence of pathogenic mutation in exon 8 of the SLC5A1 gene (c875G&gt;A, p.Cys292Tyr). This gene codes for a sodium\u2013glucose cotransporter called SGLT1. To date, no clinical case reports have reported hypertriglyceridemia and hypercholesterolemia with CGGM. Hypercalcemia and medullary nephrocalcinosis have also been reported only in a handful of CGGM cases worldwide. Through this case, the authors attempt to highlight the uncommon manifestation of this rare disease to facilitate timely management. Although the child died due to healthcare-associated infection (HCAI), pre-natal counseling of the family was carried out for the management of future pregnancies.<\/jats:p>","DOI":"10.3390\/pediatric17050090","type":"journal-article","created":{"date-parts":[[2025,9,5]],"date-time":"2025-09-05T12:18:18Z","timestamp":1757074698000},"page":"90","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Congenital Glucose\u2013Galactose Malabsorption Presenting as Hypertriglyceridemia and Medullary Nephrocalcinosis"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2358-1528","authenticated-orcid":false,"given":"Malika","family":"Goel","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University of California, San Francisco, CA 94158, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renu","family":"Suthar","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh 160012, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lesa","family":"Dawman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh 160012, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,9,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1779","DOI":"10.1111\/jpc.14702","article-title":"Literature review on congenital glucose\u2013galactose malabsorption from 2001 to 2019","volume":"56","author":"Wang","year":"2020","journal-title":"J. Paediatr. Child Health"},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Mergener, R., Nunes, M.R., Nascimento, L.P.C., Muniz, V.F., Graziadio, C., and Zen, P.R.G. (2024). Congenital glucose-galactose malabsorption: A case report about cause and consequence, not exactly in this order. Glob. Pediatr., 9.","DOI":"10.1016\/j.gpeds.2024.100181"},{"key":"ref_3","first-page":"878","article-title":"Congenital selective malabsorption of glucose and galactose","volume":"4","author":"Evans","year":"1985","journal-title":"J. Pediatr. Gastroenterol. Nutr."},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Ho\u015fnut, F.\u00d6., Janecke, A.R., \u015eahin, G., Vogel, G.F., Lafc\u0131, N.G., Bichler, P., M\u00fcller, T., Huber, L.A., Valovka, T., and Aksu, A.\u00dc. (2023). SLC5A1 Variants in Turkish Patients with Congenital Glucose-Galactose Malabsorption. Genes, 14.","DOI":"10.3390\/genes14071359"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1135","DOI":"10.1007\/s12098-021-03844-z","article-title":"Congenital Diarrhea and Enteropathies in Infants: Approach to Diagnosis","volume":"88","author":"Mantoo","year":"2021","journal-title":"Indian J. Pediatr."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/ng0296-216","article-title":"Defects in Na+\/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption","volume":"12","author":"Turk","year":"1996","journal-title":"Nat. Genet."},{"key":"ref_7","first-page":"104","article-title":"Glucose and galactose malabsorption: A new case in Spain","volume":"92","author":"Garin","year":"2020","journal-title":"An. Pediatr. (Engl. Ed.)"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1177\/000456329503200220","article-title":"Hypertriglyceridaemia in a child with hypernatraemia due to a hypothalamic tumour","volume":"32","author":"Crook","year":"1995","journal-title":"Ann. Clin. Biochem."},{"key":"ref_9","first-page":"257","article-title":"Hypertriglyceridemia in Infants and Children with Hypernatremia","volume":"9","author":"Ahmed","year":"2015","journal-title":"Int. J. Health Sci."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1007\/s00467-003-1155-8","article-title":"Neonatal nephrocalcinosis in association with glucose-galactose malabsorption","volume":"18","author":"Pahari","year":"2003","journal-title":"Pediatr. Nephrol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1336","DOI":"10.1007\/s00467-005-1885-x","article-title":"Nephrocalcinosis in glucose-galactose malabsorption, association with renal tubular acidosis","volume":"20","author":"Balfe","year":"2005","journal-title":"Pediatr. Nephrol."},{"key":"ref_12","doi-asserted-by":"crossref","unstructured":"Ma, M., Long, Q., Chen, F., Zhang, T., Lu, M., Wang, W., and Chen, L. (2019). Nutrition management of congenital glucose-galactose malabsorption: Case report of a Chinese infant. 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