Congenital disorder of glycosylation, type ib
Is there treatment for congenital disorder of glycosylation type 1B?
There is treatment available for the symptoms of congenital disorder of glycosylation type 1B (CDG-Ib). This is with mannose supplementation. Mannose is a sugar that can help make sure that the glycosylation pathway works the way it should, even when there is a mutation in the MPI gene. With this supplementation, the individual with the condition will often live a mostly normal. Without the treatment the symptoms will be severe, cause progressive damage, and the child will likely pass away.
The person who manages the treatment is typically a biochemical geneticist. Even with treatment, some health problems may develop. For this reason, it is important to be seen by a biochemical geneticist regularly. A biochemical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .
Marquardt, T., Denecke, J. (2003). "Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies." Eur J Pediatr 162(6): 359-79. PubMed ID: 12756558
Jaeken J, Matthijs G. Congenital disorders of glycosylation. Annu Rev Genomics Hum Genet. 2001;2:129-51.