{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T20:02:36Z","timestamp":1791576156036,"version":"4.3.4"},"reference-count":27,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,8,9]],"date-time":"2020-08-09T00:00:00Z","timestamp":1596931200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR\u201015RAR3\u20100004\u201006"],"award-info":[{"award-number":["ANR\u201015RAR3\u20100004\u201006"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mannose phosphate isomerase MPI\u2010CDG (formerly CDG\u20101b) is a potentially fatal inherited metabolic disease which is readily treatable with oral D\u2010mannose. We retrospectively reviewed long\u2010term outcomes of patients with MPI\u2010CDG, all but one of whom were treated with D\u2010mannose. Clinical, biological, and histological data were reviewed at diagnosis and on D\u2010mannose treatment. Nine patients were diagnosed with MPI\u2010CDG at a median age of 3\u2009months. The presenting symptoms were diarrhea (n = 9), hepatomegaly (n = 9), hypoglycemia (n = 8), and protein loosing enteropathy (n = 7). All patients survived except the untreated one who died at 2\u2009years of age. Oral D\u2010mannose was started in eight patients at a median age of 7 months (mean 38\u2009months), with a median follow\u2010up on treatment of 14\u2009years 9 months (1.5\u201020\u2009years). On treatment, two patients developed severe portal hypertension, two developed venous thrombosis, and 1 displayed altered kidney function. Poor compliance with D\u2010mannose was correlated with recurrence of diarrhea, thrombosis, and abnormal biological parameters including coagulation factors and transferrin profiles. Liver fibrosis persisted despite treatment, but two patients showed improved liver architecture during follow\u2010up. This study highlights (i) the efficacy and safety of D\u2010mannose treatment with a median follow\u2010up on treatment of almost 15\u2009years (ii) the need for life\u2010long treatment (iii) the risk of relapse with poor compliance, (iii) the importance of portal hypertension screening (iv) the need to be aware of venous and renal complications in adulthood.<\/jats:p>","DOI":"10.1002\/jimd.12289","type":"journal-article","created":{"date-parts":[[2020,7,18]],"date-time":"2020-07-18T04:05:13Z","timestamp":1595045113000},"page":"1360-1369","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["Long term outcome of <scp>MPI\u2010CDG<\/scp> patients on D\u2010mannose therapy"],"prefix":"10.1002","volume":"43","author":[{"given":"Muriel","family":"Girard","sequence":"first","affiliation":[{"name":"Paediatic Liver Unit National Reference Center for Biliary Atresia and Genetic Cholestasis and French Network for Rare Liver 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U1149  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Dupr\u00e9","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Paris  Paris France"},{"name":"Biochemistry and Genetic Department AP\u2010HP, Bichat Hospital  Paris France"},{"name":"Centre de recherche sur l'inflammation, Inserm U1149  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique","family":"Fabre","sequence":"additional","affiliation":[{"name":"Department of Pathology Necker\u2010Enfants\u2010Malades University hospital, APHP, Universit\u00e9 de Paris  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lena","family":"Damaj","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Competence Center of Inherited Metabolic Disorders Rennes Hospital  Rennes 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