Disorders of glycoprotein metabolism Save
ICD-10 code: E77
Chapter: Endocrine, nutritional and metabolic diseases
Disorders of Glycoprotein Metabolism
Glycoprotein metabolism is the process by which our body produces and breaks down glycoproteins, which are proteins that have sugar molecules attached to them. Glycoproteins play important roles in many bodily functions, including cell signaling, immune response, and blood clotting. However, disorders in glycoprotein metabolism can lead to a range of health issues.
Here are some common disorders of glycoprotein metabolism:
- CDG Syndrome: Congenital Disorders of Glycosylation (CDG) is a group of genetic disorders that affect the body's ability to produce glycoproteins. Symptoms can include developmental delays, liver dysfunction, seizures, and more.
- Mucolipidosis: Mucolipidosis is a rare genetic disorder that affects the body's ability to break down and recycle glycoproteins. This can lead to the buildup of glycoproteins in various organs, causing a range of symptoms such as developmental delays, joint stiffness, and vision problems.
- I-cell disease: I-cell disease is a rare genetic disorder that affects the body's ability to properly produce and break down glycoproteins. Symptoms can include developmental delays, skeletal abnormalities, and facial dysmorphism.
- Sialidosis: Sialidosis is a rare genetic disorder that affects the body's ability to break down glycoproteins containing sialic acid. This can lead to symptoms such as developmental delays, seizures, and vision problems.
Diagnosis and treatment of glycoprotein metabolism disorders can be challenging, as symptoms can vary widely and there are many different types of disorders. Treatment may involve management of symptoms, such as physical therapy for joint stiffness or medication to control seizures. For some disorders, enzyme replacement therapy may be an option.
If you suspect that you or a loved one may have a glycoprotein metabolism disorder, it is important to speak with a healthcare provider. They can help determine the underlying cause of symptoms and develop a treatment plan.