Carbohydrate deficient glycoprotein syndrome
Carbohydrate-Deficient Glycoprotein Syndrome (CDG Syndrome) is a group of genetic disorders that affect the body's ability to make glycoproteins. Glycoproteins are proteins that have carbohydrates attached to them and are essential for the normal functioning of all cells in the body. CDG Syndrome is characterized by a deficiency in the production of these glycoproteins, leading to a wide range of symptoms and health problems.
Types of CDG Syndrome[edit | edit source]
There are several types of CDG Syndrome, each caused by a different genetic mutation. The most common type is CDG-Ia, also known as PMM2-CDG. Other types include CDG-Ib, CDG-Ic, and CDG-Id, among others. Each type is associated with a specific set of symptoms and health problems.
Symptoms[edit | edit source]
The symptoms of CDG Syndrome can vary widely, depending on the specific type of the disorder. Common symptoms include developmental delay, intellectual disability, seizures, and problems with movement and balance. Some people with CDG Syndrome may also have organomegaly, coagulopathy, and other health problems.
Diagnosis[edit | edit source]
CDG Syndrome is typically diagnosed through genetic testing, which can identify the specific genetic mutation causing the disorder. Other diagnostic tests may include blood tests, urine tests, and imaging studies to assess the extent of the disorder and the specific health problems it is causing.
Treatment[edit | edit source]
There is currently no cure for CDG Syndrome, and treatment is focused on managing symptoms and improving quality of life. This may include physical therapy, occupational therapy, and speech therapy to help with movement and communication problems. Medications may also be used to manage seizures and other health problems.
Prognosis[edit | edit source]
The prognosis for people with CDG Syndrome can vary widely, depending on the specific type of the disorder and the severity of symptoms. Some people with CDG Syndrome may have a normal lifespan, while others may have a shortened lifespan due to complications of the disorder.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Carbohydrate deficient glycoprotein syndrome is a rare disease.
| Carbohydrate deficient glycoprotein syndrome Resources | |
|---|---|
|
 |
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
