{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T20:01:32Z","timestamp":1791576092077,"version":"4.3.4"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,4,10]],"date-time":"2020-04-10T00:00:00Z","timestamp":1586476800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pathogenic variants in the NGLY1 gene are associated with a Congenital Disorder of Deglycosylation (CDDG) characterized by delays in reaching developmental milestones, complex hyperkinetic movement disorder, transient elevation of transaminases, and alacrima or hypolacrima. To date, only few cases of NGLY1 deficiency have been identified and reported in the literature. This report highlights a first child of non\u2010consanguineous parents with no relevant family history who presented with hypotonia and poor weight gain since birth. At 2 months, the child developed paroxysmal cervical dystonia, posteriorly resolving spontaneously by age of 3. Subsequently, delays in reaching developmental milestones, ataxia, dyskinesia, visual impairment due to cone rod retinal dystrophy, low triglycerides, and persistently elevated liver transaminases were observed. Extensive etiological investigation was performed, including array\u2010CGH and metabolic evaluation with no abnormalities to note. Trio whole exome analysis identified a homozygous pathogenic variant of the NGLY<jats:italic>1<\/jats:italic> gene, c.1891del (p.Gln631Serfs*7), consistent with CDDG. Both parents were confirmed to be heterozygous carriers. The authors discuss in this case, the clinical presentation, the diagnostic challenges, and review other relevant NGLY1 deficiency cases previously reported in the literature. This case, along with the previous reported in the literature, indicates that pathogenic variants in NGLY1 cause a recognizable phenotype and should be considered in patients with a typical presentation. It also suggests that decreased sweating is not present universally in these patients.<\/jats:p>","DOI":"10.1002\/jmd2.12108","type":"journal-article","created":{"date-parts":[[2020,4,10]],"date-time":"2020-04-10T10:44:41Z","timestamp":1586515481000},"page":"2-9","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["NGLY1 deficiency\u2014A rare congenital disorder of deglycosylation"],"prefix":"10.1002","volume":"53","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9197-7586","authenticated-orcid":false,"given":"Patr\u00edcia","family":"Lipari Pinto","sequence":"first","affiliation":[{"name":"Pediatric Department, Santa Maria's Hospital \u2010 Lisbon North University Hospital Center EPE, Pediatric University Clinic, Faculty of Medicine, University of Lisbon  Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catarina","family":"Machado","sequence":"additional","affiliation":[{"name":"Medical Genetics Department, Santa Maria's Hospital \u2010 Lisbon North University Hospital Center EPE, Pediatric University Clinic, Faculty of Medicine, University of Lisbon  Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patr\u00edcia","family":"Janeiro","sequence":"additional","affiliation":[{"name":"Metabolic Diseases Unit, Pediatric Department, Santa Maria's Hospital \u2010 Lisbon North University Hospital Center EPE, Pediatric University Clinic, Faculty of Medicine, University of Lisbon  Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliette","family":"Dupont","sequence":"additional","affiliation":[{"name":"Medical Genetics Department, Santa Maria's Hospital \u2010 Lisbon North University Hospital Center EPE, Pediatric University Clinic, Faculty of Medicine, University of Lisbon  Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofia","family":"Quintas","sequence":"additional","affiliation":[{"name":"Neuropediatric Unit, Pediatric Department, Santa Maria's Hospital \u2010 Lisbon North University Hospital Center EPE, Pediatric University Clinic, Faculty of Medicine, University of Lisbon  Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Berta","family":"Sousa","sequence":"additional","affiliation":[{"name":"Medical Genetics Department, Santa Maria's Hospital \u2010 Lisbon North University Hospital Center EPE, Pediatric University Clinic, Faculty of Medicine, University of Lisbon  Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Gaspar","sequence":"additional","affiliation":[{"name":"Metabolic Diseases Unit, Pediatric Department, Santa Maria's Hospital \u2010 Lisbon North University Hospital Center EPE, Pediatric University Clinic, Faculty of Medicine, University of Lisbon  Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,4,10]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.75"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R112.429274"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-100819"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.22"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36889"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.08.008"},{"key":"e_1_2_9_8_1","first-page":"1","article-title":"Multi\u2010systemic involvement in NGLY1\u2010related disorder caused by two novel pathogenic variants","volume":"9999","author":"Heeley J","year":"2014","journal-title":"Am J Med Genet Part A"},{"key":"e_1_2_9_9_1","unstructured":"rarediseases.org\/rare-diseases\/ngly1-deficiency."},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9325-5"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.186"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12064"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.14814\/phy2.13979"},{"key":"e_1_2_9_14_1","unstructured":"LamC WolfeL NeedA ShashiV EnnsG.NGLY1\u2010Related congenital disorder of deglycosylation."},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/glycob\/cwv024"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bmcl.2017.05.010"}],"container-title":["JIMD Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjmd2.12108","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12108","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jmd2.12108","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12108","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T08:40:34Z","timestamp":1693384834000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jmd2.12108"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4,10]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,5]]}},"alternative-id":["10.1002\/jmd2.12108"],"URL":"https:\/\/doi.org\/10.1002\/jmd2.12108","archive":["Portico"],"relation":{},"ISSN":["2192-8312","2192-8312"],"issn-type":[{"value":"2192-8312","type":"print"},{"value":"2192-8312","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,4,10]]},"assertion":[{"value":"2019-10-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-02-13","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-04-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}