Congenital disorder of glycosylation, type ia
What is congenital disorder of glycosylation type 1A?
Congenital disorder of glycosylation type 1A (CDG-Ia) is a genetic disorder. In CDG-Ia, the body has a problem with adding sugar molecules to proteins (this process is called "glycosylation"). Glycosylation is an important process to tell proteins where to go, how to be modified, and how to work. Because proteins all over the body need to be glycosylated to work properly, people who have CDG-Ia can have many different medical concerns that can affect many different body systems.
The best person to figure out whether an individual has CDG-Ia is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. Biochemical geneticists can be found in an area by using the "Find Genetic Service" function at the American College of Medical Genetics website at Find Genetic Service.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/congenital-disorder-of-glycosylation-type-ia/overview/4682 • DATE UPDATED: 2016-06-05
"Congenital Disorders of Glycosylation." National Organization for Rare Diseases. http://rarediseases.org/rare-diseases/congenital-disorders-of-glycosylation/
Jaeken J. Congenital disorders of glycosylation. Handb Clin Neurol. 2013;113:1737-43.