Congenital disorder of glycosylation type 2A
CDGS2, Alkuraya syndrome, Carbohydrate-deficient glycoprotein syndrome type II
Type of disease: Rare conditions
Congenital disorder of glycosylation type 2A (CDG 2A) is a part of a group of rare inherited conditions that are present at birth (congenital) and involve defects in the glycosylation process. Glycosylation involves the joining of sugars and proteins (to form glycoproteins) by enzymes (proteins that function to convert specific substances in the body) in the cells of our bodies. These sugars (glycans) must be properly attached to specific proteins in the cells in order for the cells to function correctly. Due to the many functions of these glycoproteins throughout the body, if an error occurs in one of the many steps of the process, a wide variety of health problems may occur beginning in infancy. Symptoms can include psychomotor delays (movement, coordination, dexterity), mental retardation, and distinct physical features including thin lips, large gums, low-set rotated ears, and small head circumference. Some affected individuals may have gastrointestinal problems like diarrhea and reflux. Poor growth and low muscle tone have also been reported.
Diagnosis can be made through blood work that allows enzyme function to be analyzed. Brain scans are normal in CDG type 2A. Treatment includes nutritional supplements and monitoring as well as treatment for any specific symptoms. If your baby has been diagnosed with CDG 2A talk with your babies doctor about the most current treatment options.
Genetic testing is also available to help determine the specific type of CDG disorder. CDG type 2A is caused by mutations in the MGAT2 gene. It is passed through families in an autosomal recessive manner. Autosomal recessive means that an individual must have two copies of the changed gene or mutation that causes the condition. A person with one changed gene would be a carrier of the condition but usually will not have any symptoms. Talk with a genetic counselor or specialist if someone in your family has been diagnosed with a CDG disorder.