Congenital Disorders of Glycosylation, CDG, is a big term for over 130 rare genetic conditions. Each of these different genetic conditions are metabolic disorders. CDG affects how the glycosylation process occurs. Glycosylation is the process in which glycans are formed. Glycans are the sugar building blocks found all throughout the body. Glycans are important because they attach to different proteins and lipids which helps with healthy cell function.
The Glycosylation process affects all the organs and most of the functions in the body, like the brain, liver, heart, gastrointestinal, muscle, hormone, clotting, and immune system. If there is a deficiency it can cause multi organ problems. Though CDG affects the sugar building blocks in the body it is completely different then diabetes. With CDG conditions it is more how the sugar molecules attach to the protein molecules. If the sugar attaches incorrectly it can affect every cell in the body.
Causes
CDG is a genetic condition. That means it is inherited from the parents. Usually inherited by both parents having the gene mutation. The parents may not have any signs or symptoms of being carriers.
When both parents have the gene mutation they have a 1 in 4 chance of having a baby with CDG. They have a 1 in 4 chance of not having a baby with CDG as well. They have a 50% chance of having a baby that could be a carrier.
Symptoms
Since this is a genetic condition that is hereditary. Symptoms progress from childhood into adulthood. Infancy and early childhood symptoms may include low muscle tone, poor growth, developmental delays, liver disease, abnormal bleeding, abnormal clotting, crossed eyes, seizures, pericardial effusion, pleural effusion, or cardiomyopathy.
As the child grows into adolescence and adulthood other symptoms may start like balance problems, slurred speech, hormone problems, scoliosis, joint contractures, poor night vision, or loss of peripheral vision.
Depending on what type of CDG you have depends on what symptoms may be present.
Diagnosis
Many of the symptoms can look like other conditions or diseases. This is why many types of CDG are either misdiagnosed, or undiagnosed. Many types of CDG are new or extremely rare so doctors don’t know to look for them unless they are familiar with the conditions.
If after taking your symptoms, a physical exam, and a medical background history your doctor may want to run some tests to confirm. A blood test can be done to look for abnormal glycans. If abnormal glycans are found there will be another test to be done to discover what type of CDG it is.
A molecular genetic testing will be able to help identify what type of CDG is present.
Treatment
Since CDG is so rare, and new for treatment a team of specialists will be working hard to come up with a treatment plan. Treatment depends on what type of CDG is present, and what the symptoms are.
A care team can consist of a specialized geneticist, metabolic nutritionist, metabolic nurse, genetic counselor, pediatric neurologist, occupational therapist, speech therapist, and a physical therapist.
Treatment options may include feeding therapy, occupation, speech, or physical therapy. Medications used to help with seizures, or blood thinners for clotting issues. Plasma infusions. Corrective lenses, or eye surgery to correct cross eyes. Heart monitoring. Hormone treatment in types that affect the thyroid. Albumin, and vitamin K supplementation. Liver function monitoring.
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Outcomes
Depending on the nature and the severity of the disorder will depend on the outlook. Many people with CDG live close to normal lives. Anyone with CDG will have some cognitive or physical disabilities. With treatment and the right care these will be lessened and the quality of life will be greater.
Some people may need very little intervention, while others may have long stays in a hospital due to this condition. Treatment will be lifelong.
Metabolic disorders can be genetic. Glycosylation is how sugar building blocks attach with proteins for health cell function. #HealthSurgeon
Sources:
https://www.mayoclinic.org/departments-centers/clinical-genomics/overview/specialty-groups/cdg-clinic
https://rarediseases.org/rare-diseases/congenital-disorders-of-glycosylation/
https://www.chop.edu/conditions-diseases/congenital-disorders-glycosylation-cdg#:~:text=Congenital%20disorders%20of%20glycosylation%20(CDG)%20are%20a%20large%20group%20of,the%20healthy%20function%20of%20cells.
