Article
B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement.
The Journal of pediatrics - 1 Dec 2011
Guillard Maïlys, Morava Eva, de Ruijter Jorg, Roscioli Tony, Penzien Johann, van den Heuvel Lambert, Willemsen Michel A, de Brouwer Arjan, Bodamer Olaf A, Wevers Ron A, Lefeber Dirk J
Abstract excerpt
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.
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.