DK1-congenital disorder of glycosylation

DK1-congenital disorder of glycosylation (DK1-CDG) is a rare genetic condition characterized primarily by muscular hypotonia and a skin condition known as ichthyosis. The condition has been described in four children from two consanguineous families. In the reported cases, all affected children died during early infancy, with dilated cardiomyopathy being a contributing factor in two instances. This condition is caused by a deficiency in the enzyme dolichol kinase 1, which is essential for the de novo biosynthesis of dolichol phosphate. Mutations in the DK1 gene lead to a significant reduction (96 to 98%) in enzyme activity, resulting in the features seen in affected individuals.

People with DK1-CDG show signs of muscular weakness (hypotonia) and skin problems, particularly ichthyosis. Some affected children also experienced heart issues, such as dilated cardiomyopathy.

DK1-CDG is caused by mutations in the DK1 gene, also known as DOLK. These mutations lead to a severe loss of dolichol kinase activity, which is critical for the production of dolichol phosphate. Dolichol phosphate is important for the glycosylation process, a key step in the formation of glycoproteins.

Information about treatment is currently limited for this condition.

The outlook for people with DK1-CDG is serious. In the few reported cases, affected children died in early infancy, and complications such as heart failure played a significant role in this poor outcome.

Information about current research is currently limited for this condition.