Salla disease is a genetic disorder characterized by progressive neurological damage. It is caused by the build up of a sugar acid called sialic acid. Salla disease is one of the three sialic acid storage diseases.
Sialic acid plays a structural role in the membranes that surrounds our cells. It is made in the lysosome, a membrane-bound compartment within our cells. A protein called sialin is necessary to move free (unbound) sialic acid out of the lysosome, so cells can use it. People affected by Salla disease either make less sialin protein or a defective sialin protein that is unable to transport sialic acid. This leads to the build up of sialic acid in the lysosome and sialic acid storage disease.
Take this test to find out if you are a genetic carrier of a SLC17A5 variant and are at risk of passing it to your children.
Salla disease is caused by genetic variation in the SLC17A5 gene. This gene gives instructions for the sialin protein. Affected people produce a defective sialin protein, leading to the buildup of sialic acid in the lysosome.
Salla disease is inherited in an autosomal recessive pattern, which means two defective copies of the SLC17A5 gene must be inherited in order for the disease to manifest.
This test detects one variant in SLC17A5 which causes Salla disease. It is the most common Salla disease-causing variant in people of Swedish and Finnish descent.
- rs80338794 A
Understanding your carrier status for this variant will help you understand the risk of passing it to your children.
These signs and symptoms are usually seen in affected infants and children:
- Gradual loss of muscle tone and coordination (from around six months)
- Impaired growth
- Intellectual disability and developmental delay
How It Works
Step 1: Sign up for a free DNA Access account.
Step 2: Upload your DNA markers to DNA Access.
Step 3: Log in to your account to access your results when they are ready.