📂 Diseases
congenital disorder of glycosylation type IIf — Definition
Glikozilasyon Tip IIf Konjenital Bozukluğu / congenital disorder of glycosylation type IIf
Congenital disorder type of glucoselization is a rare genetic disease caused by a defect in the process of glucose and lipids in the cells. This condition is characterized by multisystemic findings, especially neurological development backrest, hypotoni (low muscle tone) and coagulation disorders. The disease occurs usually during early childhood and is diagnosed with biochemical methods such as serum transfer isoelectric focusing test. Treatment is symptomatic and there is no specific curing treatment.
Frequently Asked Questions
❓ What is Glikozilasyon Tip IIf Konjenital Bozukluğu?
Glikozilasyon Tip IIf Konjenital Bozukluğu; congenital disorder type of glucoselization is a rare genetic disease caused by a defect in the process of glucose and lipids in the cells. This condition is characterized by multisystemic findings, especially neurological development backrest, hypotoni (low muscle tone) and coagulation disorders. The disease occurs usually during early childhood and is diagnosed with biochemical methods such as serum transfer isoelectric focusing test. Treatment is symptomatic and there is no specific curing treatment.
❓ What is congenital disorder of glycosylation type IIf in Turkish?
The Turkish equivalent of "congenital disorder of glycosylation type IIf" is Glikozilasyon Tip IIf Konjenital Bozukluğu.
❓ Which medical field is Glikozilasyon Tip IIf Konjenital Bozukluğu related to?
This term belongs to the Diseases category.