Disorder of multiple glycosylation

Disorder of multiple glycosylation is a group of rare inherited metabolic conditions that affect a process called glycosylation. Glycosylation is the way your body attaches sugar molecules (called glycans) to proteins and fats. These sugar-coated molecules are essential for nearly every cell and organ in the body to work properly. When this process goes wrong in multiple ways at once, it can cause problems in many different organ systems, which is why these conditions are sometimes called congenital disorders of glycosylation (CDG) affecting multiple pathways. Because glycosylation is so important throughout the body, symptoms can be very wide-ranging. Common problems include developmental delay, intellectual disability, poor muscle tone (hypotonia), failure to thrive, liver problems, blood clotting issues, seizures, and skeletal abnormalities. Many affected children show signs from birth or early infancy. The severity varies greatly depending on the specific genetic cause, ranging from mild to life-threatening. There is currently no cure for most forms of this disorder. Treatment is mainly supportive and focuses on managing individual symptoms. For example, physical therapy can help with motor skills, anti-seizure medications may be used for epilepsy, and nutritional support can address feeding difficulties. In a small number of specific subtypes, targeted treatments such as mannose supplementation (for MPI-CDG) have shown benefit. Research into new therapies is ongoing, and early diagnosis through genetic testing is important to guide care and connect families with the right specialists.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Bring these to your next appointment

• Q1.What specific subtype of congenital disorder of glycosylation does my child have, and what does that mean for their future?,Are there any targeted treatments available for our specific subtype?,What specialists should we see regularly, and how often?,What emergency situations should we watch for, and what should we do if they happen?,Are there any clinical trials or new research studies we could participate in?,What therapies (physical, occupational, speech) would benefit my child the most right now?,Should other family members be tested, and what are the chances of having another affected child?

Common questions about Disorder of multiple glycosylation

Related conditions

Other rare diseases commonly researched alongside Disorder of multiple glycosylation.

• Galactosemia→