congenital disorder of glycosylation Iw — Definition

Glikozilasyonun Konjenital Bozukluğu Iw; congenital disorder of glucose (CDG-Iw) is a rare genetic disease that occurs due to a defect in the process of glucose and lipids. This disorder leads to dysfunction in multiple organ systems by affecting the structure of glucose on the cell surface. Clinical findings include developmental delay, neurological problems, liver function abnormalities and dysmorphic facial properties. CDG-Iw shows autozomal resessive inheritance and is watching with symptoms in varying severity depending on specific gene mutations.

The Turkish equivalent of "congenital disorder of glycosylation Iw" is Glikozilasyonun Konjenital Bozukluğu Iw.

This term belongs to the Diseases category.