congenital disorder of glycosylation Iy — Definition

Glikozilasyonun Doğumsal Bozukluğu Iy; the congenital disorder of glucose is a rare genetic disease caused by a lack of enzyme in the process of glucoselization of protein and lipids. This condition leads to abnormal execution of glycoproteins and glycolipids on the cell surface. Clinically shows itself with multisystemic findings such as neurological development retardation, hypotonia, nutrition power and liver dysfunction. The disease indicates autozomal resessive inheritance and is associated with a specific gene mutation.

The Turkish equivalent of "congenital disorder of glycosylation Iy" is Glikozilasyonun Doğumsal Bozukluğu Iy.

This term belongs to the Diseases category.