About SLC35A2-CDG

What is SLC35A2-CDG?

SLC35A2-CDG is a rare genetic disorder caused by mutations in the SLC35A2 gene. It is a form of congenital disorder of glycosylation (CDG) that affects the body's ability to properly process sugar molecules. Symptoms of SLC35A2-CDG can include developmental delays, intellectual disability, seizures, and vision and hearing problems.

What are the symptoms of SLC35A2-CDG?

The symptoms of SLC35A2-CDG vary from person to person, but can include:

-Developmental delay
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth retardation
-Hearing loss
-Vision problems
-Movement disorders
-Gastrointestinal issues
-Skin rashes
-Kidney problems
-Heart defects

What are the causes of SLC35A2-CDG?

SLC35A2-CDG is caused by mutations in the SLC35A2 gene. This gene provides instructions for making a protein that is involved in the transport of sugar molecules into cells. Mutations in this gene lead to a deficiency of the SLC35A2 protein, which disrupts the transport of sugar molecules and causes the signs and symptoms of SLC35A2-CDG.

What are the treatments for SLC35A2-CDG?

Currently, there is no cure for SLC35A2-CDG. Treatment focuses on managing the symptoms and complications of the disorder. This may include physical therapy, occupational therapy, speech therapy, dietary modifications, and medications to manage seizures, pain, and other symptoms. In some cases, surgery may be recommended to correct certain physical abnormalities.

What are the risk factors for SLC35A2-CDG?

The risk factors for SLC35A2-CDG include:

1. Family history of the disorder
2. Mutation in the SLC35A2 gene
3. Being of Ashkenazi Jewish descent
4. Being of Finnish descent
5. Being of Italian descent
6. Being of Spanish descent
7. Being of Portuguese descent
8. Being of French Canadian descent
9. Being of German descent
10. Being of Dutch descent

Is there a cure/medications for SLC35A2-CDG?

At this time, there is no cure for SLC35A2-CDG. However, there are medications and treatments available to help manage the symptoms of the disorder. These include physical therapy, occupational therapy, speech therapy, dietary modifications, and medications to help with seizures, breathing, and other symptoms.