About SLC13A5, a gene responsible for Citrate Transport
Citrate is a small molecule that is found in many types of food and throughout a person’s body. It is an important part of how a cell makes energy. The protein that moves citrate from outside a cell into the inner part of the cell is called a transporter.
In people with seizures, and neurologic problems related to functioning of the citrate transporter, there are changes in the amino acids that make up the transporter protein. The changes in the amino acids are likely to change the amount of citrate that is transported into the cell.
However, there are many unanswered questions in children with this disease that need to be addressed to identify appropriate treatment strategies:
- Why does too little citrate transport cause a person to have seizures and other neurologic problems?
- Are there specific drugs or supplements that might be tried to treat the disorder?
In order to answer these questions, it is critical to first have patients suffering from a citrate transporter problem appropriately diagnosed and made available for research studies.