{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T03:09:04Z","timestamp":1790392144910,"version":"4.1.0"},"reference-count":35,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["S10OD021553"],"award-info":[{"award-number":["S10OD021553"]}],"id":[{"id":"10.13039\/100000002","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":[[2021,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital disorders of glycosylation (CDGs) are a continuously expanding group of monogenic disorders of glycoprotein and glycolipid biosynthesis that cause multisystem diseases. Individuals with ALG3\u2010CDG frequently exhibit severe neurological involvement (epilepsy, microcephaly, and hypotonia), ocular anomalies, dysmorphic features, skeletal anomalies, and feeding difficulties. We present 10 unreported individuals diagnosed with ALG3\u2010CDG based on molecular and biochemical testing with 11 novel variants in <jats:italic>ALG3<\/jats:italic>, bringing the total to 40 reported individuals. In addition to the typical multisystem disease seen in ALG3\u2010CDG, we expand the symptomatology of ALG3\u2010CDG to now include endocrine abnormalities, neural tube defects, mild aortic root dilatation, immunodeficiency, and renal anomalies. N\u2010glycan analyses of these individuals showed combined deficiencies of hybrid glycans and glycan extension beyond Man<jats:sub>5<\/jats:sub>GlcNAc<jats:sub>2<\/jats:sub> consistent with their truncated lipid\u2010linked precursor oligosaccharides. This spectrum of N\u2010glycan changes is unique to ALG3\u2010CDG. These expanded features of ALG3\u2010CDG facilitate diagnosis and suggest that optimal management should include baseline endocrine, renal, cardiac, and immunological evaluation at the time of diagnosis and with ongoing monitoring.<\/jats:p>","DOI":"10.1002\/jimd.12367","type":"journal-article","created":{"date-parts":[[2021,2,14]],"date-time":"2021-02-14T17:39:51Z","timestamp":1613324391000},"page":"987-1000","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Expanding the phenotype, genotype and biochemical knowledge of <scp>ALG3\u2010CDG<\/scp>"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6433-0311","authenticated-orcid":false,"given":"Hind","family":"Alsharhan","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Human Genetics, Section of Metabolism The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of 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Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Baylor Genetics Laboratories  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole M.","family":"Engelhardt","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Human Genetics, Section of Metabolism The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kierstin N.","family":"Keller","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Human Genetics, Section of Metabolism The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Children's Hospital of Philadelphia  Philadelphia Pennsylvania 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