{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T23:10:06Z","timestamp":1790637006655,"version":"4.1.0"},"reference-count":12,"publisher":"SAGE Publications","issue":"13","license":[{"start":{"date-parts":[[2018,9,5]],"date-time":"2018-09-05T00:00:00Z","timestamp":1536105600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"Intellectual and Developmental Disabilities Research Center","award":["NICHD U54 HD0791234"],"award-info":[{"award-number":["NICHD U54 HD0791234"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:p>GM3 synthase deficiency is due to biallelic pathogenic variants in ST3GAL5, which encodes a sialyltransferase that synthesizes ganglioside GM3. Key features of this rare autosomal recessive condition include profound intellectual disability, failure to thrive and infantile onset epilepsy. We expand the phenotypic spectrum with 3 siblings who were found by whole exome sequencing to have a homozygous pathogenic variant in ST3GAL5, and we compare these cases to those previously described in the literature. The siblings had normal birth history, subsequent developmental stagnation, profound intellectual disability, choreoathetosis, failure to thrive, and visual and hearing impairment. Ichthyosis and self-injurious behavior are newly described in our patients and may influence clinical management. We conclude that GM3 synthase deficiency is a neurodevelopmental disorder with consistent features of profound intellectual disability, choreoathetosis, and deafness. Other phenotypic features have variable expressivity, including failure to thrive, epilepsy, regression, vision impairment, and skin findings. Our analysis demonstrates a broader phenotypic range of this potentially under-recognized disorder.<\/jats:p>","DOI":"10.1177\/0883073818791099","type":"journal-article","created":{"date-parts":[[2018,9,6]],"date-time":"2018-09-06T02:33:04Z","timestamp":1536201184000},"page":"825-831","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":29,"title":["ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis"],"prefix":"10.1177","volume":"33","author":[{"given":"Eliza","family":"Gordon-Lipkin","sequence":"first","affiliation":[{"name":"Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA"},{"name":"Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA"},{"name":"Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie S.","family":"Cohen","sequence":"additional","affiliation":[{"name":"Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siddharth","family":"Srivastava","sequence":"additional","affiliation":[{"name":"Department of Neurology, Boston Children\u2019s Hospital, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4185-6940","authenticated-orcid":false,"given":"Bruno P.","family":"Soares","sequence":"additional","affiliation":[{"name":"Department of Radiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Levey","sequence":"additional","affiliation":[{"name":"Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA"},{"name":"Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Fatemi","sequence":"additional","affiliation":[{"name":"Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA"},{"name":"Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA"},{"name":"Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA"},{"name":"Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2018,9,5]]},"reference":[{"key":"bibr1-0883073818791099","doi-asserted-by":"publisher","DOI":"10.1194\/jlr.R800028-JLR200"},{"key":"bibr2-0883073818791099","doi-asserted-by":"publisher","DOI":"10.1023\/B:GLYC.0000033627.02765.cc"},{"key":"bibr3-0883073818791099","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt434"},{"key":"bibr4-0883073818791099","volume-title":"Essentials of Glycobiology","author":"Schnaar RL","year":"2010"},{"key":"bibr5-0883073818791099","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35826"},{"key":"bibr6-0883073818791099","doi-asserted-by":"publisher","DOI":"10.1038\/ng1460"},{"key":"bibr7-0883073818791099","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.202"},{"key":"bibr8-0883073818791099","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12703"},{"key":"bibr9-0883073818791099","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.148"},{"key":"bibr10-0883073818791099","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37773"},{"key":"bibr11-0883073818791099","doi-asserted-by":"publisher","DOI":"10.1080\/13816810600862626"},{"key":"bibr12-0883073818791099","doi-asserted-by":"publisher","DOI":"10.1016\/j.neubiorev.2011.01.002"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073818791099","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0883073818791099","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073818791099","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:39:36Z","timestamp":1777495176000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073818791099"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,9,5]]},"references-count":12,"journal-issue":{"issue":"13","published-print":{"date-parts":[[2018,11]]}},"alternative-id":["10.1177\/0883073818791099"],"URL":"https:\/\/doi.org\/10.1177\/0883073818791099","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,9,5]]}}}