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Among others, dolichol\u2010phosphate\u2010mannose (DPM) is the mannose donor for N\u2010glycosylation as well as O\u2010mannosylation. DOLK\u2010CDG, DPM1\u2010CDG, DPM2\u2010CDG, and DPM3\u2010CDG are defects in the DPM synthesis showing both CDG\u2010I abnormalities and reduced O\u2010mannosylation of alpha\u2010dystroglycan (\u03b1DG), which leads to muscular dystrophy\u2010dystroglycanopathy. Mannose\u2010phosphate\u2010dolichol utilization defect 1 (MPDU1) plays a role in the utilization of DPM. Here, we report two MPDU1\u2010CDG patients without skin involvement, but with massive dilatation of the biliary duct system and dystroglycanopathy characteristics including hypotonia, elevated creatine kinase, dilated cardiomyopathy, buphthalmos, and congenital glaucoma. Biochemical analyses revealed elevated disialotransferrin in serum, and analyses in fibroblasts showed shortened lipid linked oligosaccharides and DPM, and reduced O\u2010mannosylation of \u03b1DG. Thus, MPDU1\u2010CDG can be added to the list of disorders with overlapping biochemical and clinical abnormalities of CDG\u2010I and dystroglycanopathy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Synopsis<\/jats:title><jats:p>Mannose\u2010phosphate\u2010dolichol utilization defect 1 patients can have overlapping biochemical and clinical abnormalities of congenital disorders of glycosylation type I and dystroglycanopathy.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jmd2.12060","type":"journal-article","created":{"date-parts":[[2019,10,1]],"date-time":"2019-10-01T05:36:04Z","timestamp":1569908164000},"page":"31-39","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["A mutation in mannose\u2010phosphate\u2010dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy"],"prefix":"10.1002","volume":"50","author":[{"given":"Walinka","family":"van Tol","sequence":"first","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition and Behavior Radboud University Medical Center  Nijmegen The Netherlands"},{"name":"Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angel","family":"Ashikov","sequence":"additional","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition and Behavior Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eckhard","family":"Korsch","sequence":"additional","affiliation":[{"name":"Children's Hospital of the City of Cologne  Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nurulamin","family":"Abu Bakar","sequence":"additional","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition and Behavior Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mich\u00e8l A.","family":"Willemsen","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Amalia Children's Hospital, Donders Institute for Brain, Cognition and Behavior Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Thiel","sequence":"additional","affiliation":[{"name":"Center for Child and Adolescent Medicine, Kinderheilkunde I University of Heidelberg  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4442-4473","authenticated-orcid":false,"given":"Dirk J.","family":"Lefeber","sequence":"additional","affiliation":[{"name":"Department of 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