📂 Diseases
Congenital disorder of glycosylation, type Io — Definition
Glikozilasyonun Konjenital Bozukluğu, Tip Io / Congenital disorder of glycosylation, type Io
Congenital disorder of glucose is a rare genetic disease that occurs as a result of a defect in the process of glucose, proteins and lipids. This disorder leads to dysfunction in multiple organ systems by affecting the structure of glicoproteins and glycolipids on the cell surface. Clinical findings include development retardation, neurological abnormalities, liver dysfunction and coagulopathy. Type Io is welded from mutations in the ALG12 gene and shows autozomal resesif inheritance.
Frequently Asked Questions
❓ What is Glikozilasyonun Konjenital Bozukluğu, Tip Io?
Glikozilasyonun Konjenital Bozukluğu, Tip Io; congenital disorder of glucose is a rare genetic disease that occurs as a result of a defect in the process of glucose, proteins and lipids. This disorder leads to dysfunction in multiple organ systems by affecting the structure of glicoproteins and glycolipids on the cell surface. Clinical findings include development retardation, neurological abnormalities, liver dysfunction and coagulopathy. Type Io is welded from mutations in the ALG12 gene and shows autozomal resesif inheritance.
❓ What is Congenital disorder of glycosylation, type Io in Turkish?
The Turkish equivalent of "Congenital disorder of glycosylation, type Io" is Glikozilasyonun Konjenital Bozukluğu, Tip Io.
❓ Which medical field is Glikozilasyonun Konjenital Bozukluğu, Tip Io related to?
This term belongs to the Diseases category.