Sialic acid storage disease is an inherited disorder that primarily affects the nervous system. People with sialic acid storage disease have signs and symptoms that may vary widely in severity. This disorder is generally classified into one of three forms: infantile free sialic acid storage disease, Salla disease, and intermediate severe Salla disease.
Mutations in the SLC17A5 gene cause all forms of sialic acid storage disease. This gene provides instructions for producing a protein called sialin that is located mainly on the membranes of lysosomes, compartments in the cell that digest and recycle materials. Sialin moves a molecule called free sialic acid, which is produced when certain proteins and fats are broken down, out of the lysosomes to other parts of the cell. Free sialic acid means that the sialic acid is not attached (bound) to other molecules. Researchers believe that sialin may also have other functions in brain cells, in addition to those associated with the lysosomes, but these additional functions are not well understood.
Sialic acid storage disease is a very rare disorder. ISSD has been identified in only a few dozen infants worldwide. Salla disease occurs mainly in Finland and Sweden and has been reported in approximately 150 people. A few individuals have been identified as having intermediate severe Salla disease.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Alexey Pshezhetsky is in Montreal, Canada. Pshezhetsky is rated as a Distinguished expert by MediFind in the treatment of Sialic Acid Storage Disease. He is also highly rated in 11 other conditions, according to our data. His top areas of expertise are Sialuria, Sialic Acid Storage Disease, Mucopolysaccharidosis Type 3A, and Mucopolysaccharidosis Type 3.
Frans Verheijen is in Rotterdam, Netherlands. Verheijen is rated as a Distinguished expert by MediFind in the treatment of Sialic Acid Storage Disease. He is also highly rated in 10 other conditions, according to our data. His top areas of expertise are Sialuria, Sialic Acid Storage Disease, Familial Porencephaly, and Porencephaly.
Magali Pettazzoni is in Bron, France. Pettazzoni is rated as a Distinguished expert by MediFind in the treatment of Sialic Acid Storage Disease. She is also highly rated in 6 other conditions, according to our data. Her top areas of expertise are Sialuria, Sialic Acid Storage Disease, GM1 Gangliosidosis, and Galactosialidosis.
Published Date: February 01, 2008Published By: National Institutes of Health