CDG syndrome
CDG Syndrome (Congenital Disorders of Glycosylation) is a group of genetic disorders caused by defects in the process of glycosylation, the attachment of sugars to proteins. The term "CDG Syndrome" is used to describe a wide variety of different conditions, each of which may have different symptoms and require different treatments.
Overview[edit | edit source]
Glycosylation is a critical function of cells, and it is involved in many different processes within the body. When this process is disrupted, it can lead to a wide range of health problems. The symptoms of CDG Syndrome can vary widely from person to person, but they often include developmental delay, intellectual disability, and problems with the liver, heart, and nervous system.
Types of CDG Syndrome[edit | edit source]
There are many different types of CDG Syndrome, each caused by a mutation in a different gene. These include CDG-Ia, CDG-Ib, CDG-Ic, and many others. Each type of CDG Syndrome has its own specific symptoms and treatment options.
Symptoms[edit | edit source]
The symptoms of CDG Syndrome can vary widely, depending on the specific type of CDG Syndrome a person has. However, common symptoms often include developmental delay, intellectual disability, and problems with the liver, heart, and nervous system. Some people with CDG Syndrome may also have abnormal fat distribution, a distinctive facial appearance, and other physical abnormalities.
Diagnosis[edit | edit source]
Diagnosis of CDG Syndrome typically involves genetic testing to identify the specific mutation causing the disorder. This can often be done using a blood sample. In some cases, other tests may also be needed to confirm the diagnosis and determine the specific type of CDG Syndrome.
Treatment[edit | edit source]
Treatment for CDG Syndrome depends on the specific type of CDG Syndrome a person has, as well as the severity of their symptoms. Treatment options may include dietary changes, medications, physical therapy, and other interventions.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
CDG syndrome is a rare disease.
| CDG 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
