B4GALT1-Congenital Disorders of Glycosylation Presents as a Non-Neurologic Glycosylation Disorder with Hepatointestinal Involvement

作者：Guillard Mailys; 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^*

来源：Journal of Pediatrics, 2011, 159(6): 1041-U215.

DOI：10.1016/j.jpeds.2011.08.007

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. (J Pediatr 2011;159:1041-3)

• 出版日期2011-12