📂 Diseases
congenital disorder of glycosylation type IIk — Definition
Tip II konjenital glikozilasyon bozukluğu / congenital disorder of glycosylation type IIk
Type II congenital glycoside disorder is a rare metabolic disease caused by genetic defects in the process of glucose and lipids in the body. In this disease, the stages of processing occurs in the Golgi body of glucose are affected, which leads to abnormal execution of cell surface proteins and secretion molecules. Clinical findings include neurological development backrest, dysmorphic facial properties, liver dysfunction and coagulation abnormalities. Diagnosis is confirmed by serum transfer isoelectric focusing analysis and genetic tests.
Frequently Asked Questions
❓ What is Tip II konjenital glikozilasyon bozukluğu?
Tip II konjenital glikozilasyon bozukluğu; type II congenital glycoside disorder is a rare metabolic disease caused by genetic defects in the process of glucose and lipids in the body. In this disease, the stages of processing occurs in the Golgi body of glucose are affected, which leads to abnormal execution of cell surface proteins and secretion molecules. Clinical findings include neurological development backrest, dysmorphic facial properties, liver dysfunction and coagulation abnormalities. Diagnosis is confirmed by serum transfer isoelectric focusing analysis and genetic tests.
❓ What is congenital disorder of glycosylation type IIk in Turkish?
The Turkish equivalent of "congenital disorder of glycosylation type IIk" is Tip II konjenital glikozilasyon bozukluğu.
❓ Which medical field is Tip II konjenital glikozilasyon bozukluğu related to?
This term belongs to the Diseases category.