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

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• 作者：Maï ; lys Guillard^a ; ^b ; Eva Morava ; MD ; PhD^c ; Jorg de Ruijter^a ; Tony Roscioli ; MD ; PhD^d ; Johann Penzien ; MD ; PhD^e ; Lambert van den Heuvel ; PhD^a ; Michel A. Willemsen ; MD ; PhD^b ; Arjan de Brouwer ; PhD^d ; Olaf A. Bodamer ; MD ; PhD^f ; Ron A. Wevers ; PhD^a ; Dirk J. Lefeber ; PhD^a ; ^b ; ^{d.lefeber@neuro.umcn.nl}
• 关键词：CDG ; Congenital disorders of glycosylation ; SNP ; Single nucleotide polymorphism
• 刊名：The Journal of Pediatrics
• 出版年：2011
• 出版时间：December, 2011
• 年：2011
• 卷：159
• 期：6
• 页码：1041-1043.e2
• 全文大小：290 K

文摘

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.