B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement

Maïlys Guillard; Eva Morava; Jorg de Ruijter; Tony Roscioli; Johann Penzien; Lambert van den Heuvel; Michel A Willemsen; Arjan de Brouwer; Olaf A Bodamer; Ron A Wevers; Dirk J Lefeber

doi:10.1016/j.jpeds.2011.08.007

B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement

J Pediatr. 2011 Dec;159(6):1041-3.e2. doi: 10.1016/j.jpeds.2011.08.007. Epub 2011 Sep 13.

Authors

Maïlys Guillard¹, Eva Morava, Jorg de Ruijter, Tony Roscioli, Johann Penzien, Lambert van den Heuvel, Michel A Willemsen, Arjan de Brouwer, Olaf A Bodamer, Ron A Wevers, Dirk J Lefeber

Affiliation

¹ Department of Laboratory Medicine, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

PMID: 21920538
DOI: 10.1016/j.jpeds.2011.08.007

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Child
Congenital Disorders of Glycosylation / complications*
Congenital Disorders of Glycosylation / genetics*
Female
Galactosyltransferases / genetics*
Humans
Intestinal Diseases / genetics*
Liver Diseases / genetics*
Male
Phenotype

Substances

Galactosyltransferases
beta-1,4-galactosyltransferase I