Salla disease

Salla disease (SD) is an inherited disorder characterized by progressive damage to the nervous system, poor growth, and seizures. It involves defects in a protein called sialin, which is needed to move a substance called free sialic acid within cells. Symptoms are due to the toxic build-up of sialic acid in the cells, particularly in the nervous system. Salla disease is the mildest form in a group of diseases called sialic acid storage disorders. There is a moderate form called intermediate severe Salla disease and a severe form known as infantile free sialic acid-storage disease (ISSD). View testing options