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

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...

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Bibliographic Details
Published in:The Journal of pediatrics 2011-12, Vol.159 (6), p.1041-1043.e2
Main Authors: Guillard, Maïlys, Morava, Eva, MD, PhD, de Ruijter, Jorg, Roscioli, Tony, MD, PhD, Penzien, Johann, MD, PhD, van den Heuvel, Lambert, PhD, Willemsen, Michel A., MD, PhD, de Brouwer, Arjan, PhD, Bodamer, Olaf A., MD, PhD, Wevers, Ron A., PhD, Lefeber, Dirk J., PhD
Format: Article
Language:English
Subjects:
Biological and medical sciences
Child
coagulation
Congenital Disorders of Glycosylation - complications
Congenital Disorders of Glycosylation - genetics
Female
Galactosyltransferases - genetics
General aspects
genes
glycosylation
Humans
Intestinal Diseases - genetics
Liver Diseases - genetics
Male
Medical sciences
patients
Pediatrics
Phenotype
psychomotor development
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Summary: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.
ISSN:0022-3476
1097-6833
DOI:10.1016/j.jpeds.2011.08.007