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

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

Maïlys Guillard  1 , 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
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Free article
Case Reports

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

Maïlys Guillard et al. J Pediatr. 2011 Dec.
Free article

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.

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