congenital disorder of glycosylation type IIm — Definition

Glikozilasyonun Tip IIm Konjenital Bozukluğu; type IIm congenital disorder of glucose is a rare genetic disease that occurs due to a defect in the process of glucose and lipids. This disorder is characterized by clinical findings such as neurological development retardation, dysmorphic facial properties and coagulation abnormalities that affect multiple organ systems. The disease shows autozomal resessive inheritance and leads to deterioration in the synthesis of glicoprotein as a result of a specific gene mutation. It is related to diagnosis, biochemical tests and genetic analysis, treatment is symptomatic and supporting.

The Turkish equivalent of "congenital disorder of glycosylation type IIm" is Glikozilasyonun Tip IIm Konjenital Bozukluğu.

This term belongs to the Diseases category.