congenital disorder of glycosylation Ip — Definition

Glikozilasyonun Doğumsal Bozukluğu Ip; the congenital disorder of glucose is a rare metabolic disease caused by a genetic defect in the process of glucose and lipids. This condition affects multiple organ systems by leading to abnormal execution of glucose and glycoproteins on the cell surface. Clinical findings include development retardation, neurological disorders, liver function abnormalities and immunodeficiency. The disease shows autozomal resessive inheritance and the diagnosis is often subject to genetic tests and serum transfer isoelectric focus analysis.

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

This term belongs to the Diseases category.