title: B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement.
abstract: The clinical phenotype of congenital disorders of glycosylation is heterogeneous, mostly including a severe neurological involvement and multisystem disease. We identified a novel patient with a galactosyltransferase deficiency with mild hepatopathy and coagulation anomalies, but normal psychomotor development. The tissue-specific expression of the defective B4GALT1 gene correlated with the clinical phenotype.
authors.affiliation: Department of Laboratory Medicine, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
authors.forename: Maïlys
authors.initials: M
authors.lastname: Guillard
authors.forename: Eva
authors.initials: E
authors.lastname: Morava
authors.forename: Jorg
authors.initials: J
authors.lastname: de Ruijter
authors.forename: Tony
authors.initials: T
authors.lastname: Roscioli
authors.forename: Johann
authors.initials: J
authors.lastname: Penzien
authors.forename: Lambert
authors.initials: L
authors.lastname: van den Heuvel
authors.forename: Michel A
authors.initials: MA
authors.lastname: Willemsen
authors.forename: Arjan
authors.initials: A
authors.lastname: de Brouwer
authors.forename: Olaf A
authors.initials: OA
authors.lastname: Bodamer
authors.forename: Ron A
authors.initials: RA
authors.lastname: Wevers
authors.forename: Dirk J
authors.initials: DJ
authors.lastname: Lefeber
mesh_terms: D002648:Child; D018981:Congenital Disorders of Glycosylation / Q000150:complications* / Q000235:genetics*; D005260:Female; D005700:Galactosyltransferases / Q000235:genetics*; D006801:Humans; D007410:Intestinal Diseases / Q000235:genetics*; D008107:Liver Diseases / Q000235:genetics*; D008297:Male; D010641:Phenotype
chemical_list: D005700:Galactosyltransferases; C119701:beta-1,4-galactosyltransferase I