{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T16:15:54Z","timestamp":1790180154026,"version":"4.1.0"},"reference-count":9,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,3,17]],"date-time":"2023-03-17T00:00:00Z","timestamp":1679011200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000071","name":"National Institute of Child Health and Human Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000071","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>ALG13\u2010CDG is a rare X\u2010linked disorder of N\u2010linked glycosylation. Given the lack of long\u2010term outcome data in ALG13\u2010CDG, we collected natural history data and reviewed individuals surviving to young adulthood with confirmed pathogenic variants in <jats:italic>ALG13<\/jats:italic> in our own cohort and in the literature. From the 14 ALG13\u2010CDG patients enrolled into our Frontiers of Congenital Disorders of Glycosylation Consortium natural history study only two patients were older than 16\u2009years; one of these two females is so far unreported. From the 52 patients described in the medical literature with confirmed pathogenic variants in <jats:italic>ALG13<\/jats:italic> only five patients were older than 16\u2009years (all females), in addition to the new, unreported patient from our natural history study. Two male patients have died due to ALG13\u2010CDG, and there were no surviving males older than 16\u2009years with a confirmed ALG13\u2010CDG diagnosis. Our adolescent and young adult cohort of six patients presented with epilepsy, muscular hypotonia, speech, and developmental delay. Intellectual disability was present in all female patients with ALG13\u2010CDG. Unreported features included ataxia, neuropathy, and severe gastrointestinal symptoms requiring G\/J tube placement. In addition, two patients from our natural history study developed unilateral hearing loss. Skeletal abnormalities were found in four patients, including osteopenia and scoliosis. Major health problems included persistent seizures in three patients. Ketogenic diet was efficient for seizures in three out of four patients. Although all patients were mobile, they all had severe communication problems with mostly absent speech and were unable to function without parental support. In summary, long\u2010term outcome in ALG13\u2010CDG includes gastrointestinal and skeletal involvement in addition to a chronic, mostly non\u2010progressive neurologic phenotype.<\/jats:p>","DOI":"10.1002\/ajmg.a.63179","type":"journal-article","created":{"date-parts":[[2023,3,17]],"date-time":"2023-03-17T17:59:50Z","timestamp":1679075990000},"page":"1626-1631","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Long\u2010term outcomes in <scp>ALG13\u2010Congenital Disorder of Glycosylation<\/scp>"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6478-6610","authenticated-orcid":false,"given":"Rameen","family":"Shah","sequence":"first","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Biochemistry and Molecular Biology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christin","family":"Johnsen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Pediatrics University Clinic of G\u00f6ttingen  G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beth A.","family":"Pletcher","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Rutgers New Jersey Medical School  Newark New Jersey USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew C.","family":"Edmondson","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamas","family":"Kozicz","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Anatomy University of Pecs Medical School  Pecs Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Morava","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Medical Genetics University of Pecs Medical School  Pecs Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,3,17]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2022.104473"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12378"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2022.04.003"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2017_53"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41420-020-00319-6"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12290"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s44162-022-00003-6"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2015_416"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds123"}],"container-title":["American Journal of Medical Genetics Part 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