Congenital disorder of glycosylation, type ib
What is congenital disorder of glycosylation type 1B?
Congenital disorder of glycosylation type 1B (CDG-Ib) is a genetic condition in which the body has problems in making glycoproteins. Glycoproteins are proteins in our bodies that have small molecules called carbohydrates attached to them. If an individual can't form glycoproteins correctly, their body cannot grow and function well.
If not found early in life and treated, individuals have many health problems including inability to grow at the expected rate (failure to thrive), hypotonia (low muscle tone), vomiting, hypoglycemia (low blood sugar), severe diarrhea because they have an intestinal condition called "protein-losing enteropathy", easy bleeding due to problems forming blood clots, and liver disease. CDG-Ib doesn't cause learning problems or lead to problems with the brain like other forms of congenital disorders of glycosylation.
CDG-Ib is treated by taking supplements of a sugar called mannose. This life-long therapy is requied in order to live a relatively normal life with decreased symptoms. Without this treatment these people typically pass away from life-threating disease symptoms.
The best person to figure out whether an individual has CDG-Ib is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. A biochemical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/congenital-disorder-of-glycosylation-type-ib/overview/504 • DATE UPDATED: 2019-07-24
Genetic and Rare Disease Information Center. MPI-CDG (CDG-1B). https://rarediseases.info.nih.gov/gard/9830/mpi-cdg-cdg-ib/resources/1
Congenital Disorder of Glycosylation, Type Ib; CDG1B. OMIM. http://www.omim.org/entry/602579
Mannosephosphate Isomerase; MPI. OMIM. http://www.omim.org/entry/154550
MPI. Genetics Home Reference. https://ghr.nlm.nih.gov/gene/MPI