Salla is a genetic lysosomal storage disease that primarily affects the nervous system. 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).
Approximately 130 individuals are believed to currently be diagnosed with Salla disease, mostly in Finland and Sweden, with less than a dozen known cases, thus far, in the United States.
ABOUT LYSOSOMAL STORAGE DISEASES
There are over 50 diseases in the Lysosomal Disease family. There are no cures and very few therapies to lessen the severity of the symptoms of any of these disorders.
You may have heard about some Lysosomal Disorders, like Tay-Sachs, Gaucher, or Niemann-Pick. But because the individual disorders are often rare, names like Batten, Fabry, Krabbe and Pompe probably seem foreign to you. Other names, like Mucopolysaccharidoses, Cystinosis, Mucolipidosis and Aspartylglycosaminuria are not only unfamiliar but virtually unpronounceable as well.
For a list of lysosomal diseases, with information on patient resources and ways to become involved in the search for cures for every syndrome in the Lysosomal Disease family, please click here.
For more information, watch the video below and visit our friends at the Hide & Seek Foundation.
Visit our STAR pages for information on individual families and their updates.