Congenital disorder of glycosylation, type ib

Symptoms

What are the main symptoms of congenital disorder of glycosylation type 1B?

Congenital disorder of glycosylation type 1B (CDG-Ib) is a genetic condition characterized by 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.

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 .

Niehues, R et al. 1998. Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose Isomerase Deficiency and Mannose Therapy. J Clin Invest; 101(7):1414-1420.

MPI-CDG (CDG-Ib). Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/gard/9830/mpi-cdg-cdg-ib/resources/9

Congenital Disorder of Glycosylation, Type Ib; CDG1B. OMIM. http://www.omim.org/entry/602579

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