biostudies-literatureNg BGSimons Foundation Autism Research InitiativeNIDDK NIH HHSMedical Research CouncilRegion SkåneNHGRI NIH HHSNINDS NIH HHSNational Institutes of HealthJPB FoundationNational Human Genome Research Institute1333-1348https://www.ebi.ac.uk/biostudies/studies/S-EPMC7722193biostudies-literatureUnknown43(6)Asparagine-linked glycosylation 13 homolog (ALG13) encodes a nonredundant, highly conserved, X-linked uridine diphosphate (UDP)-N-acetylglucosaminyltransferase required for the synthesis of lipid linked oligosaccharide precursor and proper N-linked glycosylation. De novo variants in ALG13 underlie a form of early infantile epileptic encephalopathy known as EIEE36, but given its essential role in glycosylation, it is also considered a congenital disorder of glycosylation (CDG), ALG13-CDG. Twenty-four previously reported ALG13-CDG cases had de novo variants, but surprisingly, unlike most forms of CDG, ALG13-CDG did not show the anticipated glycosylation defects, typically detected by altered transferrin glycosylation. Structural homology modeling of two recurrent de novo variants, p.A81T andJournal of inherited metabolic diseasePredominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.PMC7722193U01HG010218R01DK099551U01 HG010218UM1 HG006493MR/S007180/1U54 NS115198R01 DK099551U24 HG008956U01 HG007708U01HG007708Zalan AShiryaev SAGardiner FSi YTuite ARusso RSAbbott MAGraf WDNg BGFreeze HHScheffer IELarson AAHammond KMorava EChristodoulou JMonaghan KGPalculict TBGrunewald SRowe LJSchenone ABBernstein JAChelakkadan SEklund EAPapazoglu GMRosenfeld JASchnur RERhodes LHoganson GEMcCormack CLiu PKohler JNHauser NSMiller RAsteggiano CThabet FChung WKCiliberto MADong YYCousin JHouck KMWebster RIUndiagnosed Diseases Network, University of Washington Center for Mendelian Genomics (UW-CMG)Villanueva MMPletcher BAWang RYBarr ENickerson DAMadathil SBamshad MJGhosh SWolfe LAWilson DMeeks NJLSerrano Russi AHfalsePredominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.Asparagine-linked glycosylation 13 homolog (ALG13) encodes a nonredundant, highly conserved, X-linked uridine diphosphate (UDP)-N-acetylglucosaminyltransferase required for the synthesis of lipid linked oligosaccharide precursor and proper N-linked glycosylation. De novo variants in ALG13 underlie a form of early infantile epileptic encephalopathy known as EIEE36, but given its essential role in glycosylation, it is also considered a congenital disorder of glycosylation (CDG), ALG13-CDG. Twenty-four previously reported ALG13-CDG cases had de novo variants, but surprisingly, unlike most forms of CDG, ALG13-CDG did not show the anticipated glycosylation defects, typically detected by altered transferrin glycosylation. Structural homology modeling of two recurrent de novo variants, p.A81T and2020-01-01T00:00:00Z2020 Nov2025-04-04T09:01:47.486Z2022-02-10T08:17:55.824ZS-EPMC77221933268175110.1002/jimd.12290