/DK1-congenital disorder of glycosylation

DK1-congenital disorder of glycosylation

Rare Disease

MONDO:0012556

Also Known As

CDG syndrome type ImCDG-ImCDG1MDK1-CDGDK1-congenital disorder of glycosylationcarbohydrate deficient glycoprotein syndrome type Imcongenital disorder of glycosylation type 1mcongenital disorder of glycosylation type Imdolichol kinase deficiencyhypotonia and ichthyosis due to dolichol phosphate deficiencyCDG ImCDGImDOLK-CDG (CDG-Im)Dk1 deficiencycongenital disorder of glycosylation, type Im

Definition

DK1-CDG is characterized by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.