{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T04:51:06Z","timestamp":1747198266310,"version":"3.40.5"},"reference-count":11,"publisher":"Walter de Gruyter GmbH","issue":"0","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"Abstract<\/jats:title>\n \n Objectives<\/jats:title>\n Asparagine-dependent glycosylation 11-congenital disorders of glycosylation (ALG11-CDG) is a rare autosomal recessive N-glycosylation defect with multisystem involvement particularly neurological symptoms such as epilepsy and neuromotor developmental delay.<\/jats:p>\n <\/jats:sec>\n \n Case presentation<\/jats:title>\n A 31-month-old male patient admitted to our center with complaints of axial hypotonia, drug-resistant myoclonic seizures, microcephaly and deafness. The electroencephalography (EEG) showed a burst-suppression pattern without hypsarrhythmia. Basal metabolic investigations were unremarkable. Progressive cerebral atrophy, hypomyelination and corpus callosum hypoplasia were striking features in brain MRI images taken during our follow-up. Compound heterozygous mutations of the ALG11<\/jats:italic> gene were found by whole exome sequencing (WES) analysis. It was determined that the c.476T>C mutation is a novel mutation. CDG type 1 pattern was detected with the examination of carbohydrate-deficient transferrin (CDT) by capillary zone electrophoresis.<\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n In patients with a possible congenital defect of glycosylation, a screening test such as CDT analysis is suggested. To discover novel mutations in this rare disease group, expanded genetic analysis should be performed.<\/jats:p>\n <\/jats:sec>","DOI":"10.1515\/jpem-2022-0480","type":"journal-article","created":{"date-parts":[[2023,2,27]],"date-time":"2023-02-27T06:53:30Z","timestamp":1677480810000},"source":"Crossref","is-referenced-by-count":0,"title":["ALG11-CDG: novel variant and review of the literature"],"prefix":"10.1515","volume":"0","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6139-6027","authenticated-orcid":false,"given":"Ay\u015fenur Engin","family":"Erdal","sequence":"first","affiliation":[{"name":"Department of Pediatric Metabolic Diseases , Children\u2019s Hospital, Ankara Bilkent City Hospital , \u00c7ankaya , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmet Cevdet","family":"Ceylan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , Ankara Bilkent City Hospital, Ankara Y\u0131ld\u0131r\u0131m Beyaz\u0131t University Faculty of Medicine , \u00c7ankaya , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K\u0131v\u0131lc\u0131m","family":"G\u00fcc\u00fcyener","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology , Gazi University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9882-2883","authenticated-orcid":false,"given":"R\u0131dvan Murat","family":"\u00d6ktem","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolic Diseases , Gazi University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6822-1713","authenticated-orcid":false,"given":"Oya","family":"K\u0131reker K\u00f6yl\u00fc","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolic Diseases , Children\u2019s Hospital, Ankara Bilkent City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c7i\u011fdem Seher","family":"Kasapkara","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolic Diseases , Children\u2019s Hospital, Ankara Bilkent City Hospital, Ankara Y\u0131ld\u0131r\u0131m Beyaz\u0131t University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2023,2,28]]},"reference":[{"key":"2023022706532570121_j_jpem-2022-0480_ref_001","doi-asserted-by":"crossref","unstructured":"Jaeken, J. Congenital disorders of protein glycosylation. In: Emery and Rimoin\u2019s essential medical genetics. Leuven, Belgium: Academic Press; 2013.","DOI":"10.1016\/B978-0-12-383834-6.00098-7"},{"key":"2023022706532570121_j_jpem-2022-0480_ref_002","doi-asserted-by":"crossref","unstructured":"P\u00e9anne, R, De Lonlay, P, Foulquier, F, Kornak, U, Lefeber, DJ, Morava, E, et al.. Congenital disorders of glycosylation (CDG): Quo vadis? Eur J Med Genet 2018;61:643\u201363, https:\/\/doi.org\/10.1016\/j.ejmg.2017.10.012.","DOI":"10.1016\/j.ejmg.2017.10.012"},{"key":"2023022706532570121_j_jpem-2022-0480_ref_003","doi-asserted-by":"crossref","unstructured":"Dave, MB, Dherai, AJ, Udani, VP, Hegde, AU, Desai, NA, Ashavaid, TF. Comparison of transferrin isoform analysis by capillary electrophoresis & HPLC for screening congenital disorders of glycosylation. 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