B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 21920538.
- Also identified by DOI 10.1016/j.jpeds.2011.08.007.
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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.
Medical subject headings
- Congenital Disorders of Glycosylation
- Galactosyltransferases
- Intestinal Diseases
- Liver Diseases