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

Research output: Contribution to journalArticlepeer-review

18 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1041-1043.e2
JournalJournal of Pediatrics
Volume159
Issue number6
DOIs
StatePublished - Dec 2011
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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