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Using exome sequencing, we detected biallelic variants in\n                    <jats:italic>GFUS<\/jats:italic>\n                    (NM_003313.4) c.[632G&gt;A];[659C&gt;T] (p.[Gly211Glu];[Ser220Leu]) in a patient presenting with global developmental delay, mild coarse facial features and faltering growth.\n                    <jats:italic>GFUS<\/jats:italic>\n                    encodes GDP\u2010L\u2010fucose synthase, the terminal enzyme in\n                    <jats:italic>de novo<\/jats:italic>\n                    synthesis of GDP\u2010L\u2010fucose, required for fucosylation of N\u2010 and O\u2010glycans. We found reduced GFUS protein and decreased GDP\u2010L\u2010fucose levels leading to a general hypofucosylation determined in patient's glycoproteins in serum, leukocytes, thrombocytes and fibroblasts. Complementation of patient fibroblasts with wild\u2010type\n                    <jats:italic>GFUS<\/jats:italic>\n                    cDNA restored fucosylation. Making use of the GDP\u2010L\u2010fucose salvage pathway, oral fucose supplementation normalized fucosylation of proteins within 4\u00a0weeks as measured in serum and leukocytes. During the follow\u2010up of 19\u00a0months, a moderate improvement of growth was seen, as well as a clear improvement of cognitive skills as measured by the Kaufmann ABC and the Nijmegen Pediatric CDG Rating Scale. In conclusion, GFUS\u2010CDG is a new glycosylation disorder for which oral L\u2010fucose supplementation is promising.\n                  <\/jats:p>","DOI":"10.15252\/emmm.202114332","type":"journal-article","created":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T06:05:52Z","timestamp":1630476352000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["A spoonful of L\u2010fucose\u2014an efficient therapy for GFUS\u2010CDG, a new glycosylation disorder"],"prefix":"10.1038","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4215-8258","authenticated-orcid":false,"given":"Ren\u00e9 G","family":"Feichtinger","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"H\u00fcllen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Koller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dieter","family":"Kotzot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerian","family":"Grote","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6618-2626","authenticated-orcid":false,"given":"Erdmann","family":"Rapp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Hofbauer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Brugger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Thiel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6970-336X","authenticated-orcid":false,"given":"Johannes A","family":"Mayr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1968-8103","authenticated-orcid":false,"given":"Saskia B","family":"Wortmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,9,1]]},"reference":[{"key":"BFEMMM202114332_CR1","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/S0925-4439(99)00077-0","volume":"1455","author":"J\u2010C Michalski","year":"1999","unstructured":"Michalski J\u2010C, Klein AJ (1999) Glycoprotein lysosomal storage disorders: \u03b1\u2010and \u03b2\u2010mannosidosis, fucosidosis and \u03b1\u2010N\u2010acetylgalactosaminidase deficiency. 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