📂 Diseases
congenital disorder of glycosylation Ix — Definition
Konjenital Glikozilasyon Bozukluğu Ix / congenital disorder of glycosylation Ix
Congenital glycoside disorder Ix (CDG-Ix) is a rare genetic disease that occurs as a result of defects in the synthesis of glucose and other glycoconjugats. This disorder leads to multisystemic findings due to the fact that cell surface and secretion proteins are not properly glucoseille. Clinically characterized by neurological development backrest, hypotoni, coagulation abnormalities and dysmorphic facial properties. CDG-Ix is a subtype that can not be defined with a specific genetic mutation and is therefore classified as 'Ix' (non-existent).
Frequently Asked Questions
❓ What is Konjenital Glikozilasyon Bozukluğu Ix?
Konjenital Glikozilasyon Bozukluğu Ix; congenital glycoside disorder Ix (CDG-Ix) is a rare genetic disease that occurs as a result of defects in the synthesis of glucose and other glycoconjugats. This disorder leads to multisystemic findings due to the fact that cell surface and secretion proteins are not properly glucoseille. Clinically characterized by neurological development backrest, hypotoni, coagulation abnormalities and dysmorphic facial properties. CDG-Ix is a subtype that can not be defined with a specific genetic mutation and is therefore classified as 'Ix' (non-existent).
❓ What is congenital disorder of glycosylation Ix in Turkish?
The Turkish equivalent of "congenital disorder of glycosylation Ix" is Konjenital Glikozilasyon Bozukluğu Ix.
❓ Which medical field is Konjenital Glikozilasyon Bozukluğu Ix related to?
This term belongs to the Diseases category.