DK1-congenital disorder of glycosylation

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.

Also known as: CDG syndrome type Im, CDG-Im, CDG1M, DK1-CDG, DK1-congenital disorder of glycosylation, carbohydrate deficient glycoprotein syndrome type Im, congenital disorder of glycosylation type 1m, congenital disorder of glycosylation type Im

7 clinical trials for this condition and its sub-types.