{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T09:48:12Z","timestamp":1781776092676,"version":"3.54.5"},"reference-count":24,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,4,12]],"date-time":"2023-04-12T00:00:00Z","timestamp":1681257600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>We report the case of a 2-year-old girl who was diagnosed with Mannose-6-phosphate isomerase-congenital disorder of glycosylation (MPI-CDG) and provide a review of the relevant literature. The young girl presented with recurrent unexplained diarrhea, vomiting, hypoproteinemia, and elevated liver transaminases. Whole-exome sequencing revealed that the patient had compound heterozygous mutations in the MPI gene (NM_0024). An exon 4 (c.455G\u2009&amp;gt;\u2009T, p.R152l) mutation was inherited from the mother and an exon 7 (c.884G\u2009&amp;gt;\u2009A, p.R295H) mutation from the father. One week after the start of mannose treatment, the vomiting and diarrhea symptoms disappeared completely and did not show any side effects. We also provide a brief review of the relevant literature. Including the present case, a total of 52 patients from hospitals across 17 countries were diagnosed with MPI-CDG. Age at disease onset ranged from birth to 15 years, with an onset under 2 years in most patients (43\/50). Overall, patients presented with at least one or more of the following symptoms: chronic diarrhea (41\/46), vomiting (23\/27), hepatomegaly (39\/44), hepatic fibrosis (20\/37), protein-losing enteropathy (30\/36), elevated serum transaminases (24\/34), hyperinsulinemic-hypoglycemia (24\/34), hypoalbuminemia (33\/38), prolonged coagulation (26\/30), splenomegaly (13\/21), non-pitting edema (14\/20), failure to thrive (13\/36), portal hypertension (4\/9), epilepsy (2\/17), thrombosis (12\/14), and abnormally elevated leukocytes (5). None of the patients was reported to have an intellectual disability (0\/28). The majority of patients (26\/30) showed clinical symptoms, and laboratory results improved after oral mannose administration. Our findings suggest that MPI-CDG should be considered in children with unexplained recurrent digestive and endocrine systems involvement, and gene examination should be performed immediately to obtain a definite diagnosis in order to begin treatment in a timely manner.<\/jats:p>","DOI":"10.3389\/fped.2023.1150367","type":"journal-article","created":{"date-parts":[[2023,4,12]],"date-time":"2023-04-12T05:20:19Z","timestamp":1681276819000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["Mannose phosphate isomerase gene mutation leads to a congenital disorder of glycosylation: A rare case report and literature review"],"prefix":"10.3389","volume":"11","author":[{"given":"Siliang","family":"Lu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuheng","family":"Liang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinyi","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guosheng","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huaijun","family":"Ning","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,4,12]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"190","DOI":"10.1111\/j.1749-6632.2010.05840.x","article-title":"Congenital disorders of glycosylation","volume":"1214","author":"Jaeken","year":"2010","journal-title":"Ann N Y Acad Sci"},{"key":"B2","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1016\/j.tibs.2015.03.002","article-title":"Congenital disorders of glycosylation: a concise chart of glycocalyx dysfunction","volume":"40","author":"Hennet","year":"2015","journal-title":"Trends Biochem Sci"},{"key":"B3","doi-asserted-by":"publisher","first-page":"170","DOI":"10.1016\/j.jpeds.2016.12.060","article-title":"A population-based study on congenital disorders of protein N- and combined with O-glycosylation experience in clinical and genetic diagnosis","volume":"183","author":"P\u00e9rez-Cerd\u00e1","year":"2017","journal-title":"J Pediatr"},{"key":"B4","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1002\/1098-1004(200009)16:3%3C247::AID-HUMU7%3E3.0.CO;2-A","article-title":"Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type ib (CDG-ib)","volume":"16","author":"Schollen","year":"2000","journal-title":"Hum Mutat"},{"key":"B5","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1016\/j.ajhg.2011.12.024","article-title":"DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation","volume":"90","author":"Jones","year":"2012","journal-title":"Am J Hum Genet"},{"key":"B6","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1002\/jmd2.12149","article-title":"Mannose phosphate isomerase deficiency-congenital disorder of glycosylation (MPI-CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: a rare but treatable cause of thrombophilia","volume":"55","author":"M\u00fchlhausen","year":"2020","journal-title":"JIMD Rep"},{"key":"B7","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1242\/dmm.010116","article-title":"A zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation","volume":"6","author":"Chu","year":"2013","journal-title":"Dis Model Mech"},{"key":"B8","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1590\/S0004-282X2009000200035","article-title":"Congenital muscular dystrophy. 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