{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Bosnyak I"],"funding":["National Institute of Neurological Disorders and Stroke","National Center for Advancing Translational Sciences","NINDS NIH HHS"],"pagination":["135-143"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11078713"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["65(3)"],"pubmed_abstract":["ALG1-CDG is a rare, clinically variable metabolic disease, caused by the defect of adding the first mannose (Man) to N-acetylglucosamine (GlcNAc<sub>2</sub>)-pyrophosphate (PP)-dolichol to the growing oligosaccharide chain, resulting in impaired N-glycosylation of proteins. N-glycosylation has a key role in functionality, stability, and half-life of most proteins. Therefore, congenital defects of glycosylation typically are multisystem disorders. Here we report a 3-year-old patient with severe neurological, cardiovascular, respiratory, musculoskeletal and gastrointestinal symptoms. ALG1-CDG was suggested based on exome sequencing and Western blot analysis. Despite her severe clinical manifestations and genetic diagnosis, serum transferrin glycoform analysis was normal. Western blot analysi"],"journal":["JIMD reports"],"pubmed_title":["Normal transferrin glycosylation does not rule out severe ALG1 deficiency."],"pmcid":["PMC11078713"],"funding_grant_id":["1U54NS115198‐01","U54 NS115198"],"pubmed_authors":["Sadek M","Morava E","Bosnyak I","Ranatunga W","Kozicz T"],"additional_accession":[]},"is_claimable":false,"name":"Normal transferrin glycosylation does not rule out severe ALG1 deficiency.","description":"ALG1-CDG is a rare, clinically variable metabolic disease, caused by the defect of adding the first mannose (Man) to N-acetylglucosamine (GlcNAc<sub>2</sub>)-pyrophosphate (PP)-dolichol to the growing oligosaccharide chain, resulting in impaired N-glycosylation of proteins. N-glycosylation has a key role in functionality, stability, and half-life of most proteins. Therefore, congenital defects of glycosylation typically are multisystem disorders. Here we report a 3-year-old patient with severe neurological, cardiovascular, respiratory, musculoskeletal and gastrointestinal symptoms. ALG1-CDG was suggested based on exome sequencing and Western blot analysis. Despite her severe clinical manifestations and genetic diagnosis, serum transferrin glycoform analysis was normal. Western blot analysi","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 May","modification":"2026-06-03T06:49:15.334Z","creation":"2026-04-25T03:21:52.007Z"},"accession":"S-EPMC11078713","cross_references":{"pubmed":["38736633"],"doi":["10.1002/jmd2.12415"]}}