Congenital disorder of glycosylation, type ib
What causes congenital disorder of glycosylation type 1B?
Congenital disorder of glycosylation type 1B is caused by having a mutation (or change) in both copies of an individual's MPI gene. A gene is an instruction to our bodies on how to function and develop. The gene that has a mutations in this condition is called the MPI gene. When a person has a mutation in both copies of their MPI gene, the gene cannot work properly.
In order to learn more about the gene involved in CDG-Ib, people can speak with a geneticist or a genetic counselor. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.
MPI-CDG (CDG-Ib). Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/gard/9830/mpi-cdg-cdg-ib/resources/9