Learn About Sialic Acid Storage Disease

What is the definition of Sialic Acid Storage Disease?

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.

Save information for later
Sign Up
What are the causes of Sialic Acid Storage 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.

How prevalent is Sialic Acid Storage Disease?

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.

Is Sialic Acid Storage Disease an inherited disorder?

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.

Who are the top Sialic Acid Storage Disease Local Doctors?
Distinguished
Highly rated in
11
conditions

University Of Montreal

Chu Sainte Justine Research Center 
Montreal, QC, CA H3T1C

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.

Distinguished
Highly rated in
10
conditions

Erasmus MC

Rotterdam, ZH, NL 

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.

 
 
 
 
Learn about our expert tiers
Learn more
Distinguished
Highly rated in
6
conditions

Hospices Civils De Lyon

Biochemical And Molecular Biology Department, Uf Maladies Héréditaires Du Métabolisme 
Bron, FR 

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.

What are the latest Sialic Acid Storage Disease Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
Who are the sources who wrote this article ?

Published Date: February 01, 2008Published By: National Institutes of Health

What are the Latest Advances for Sialic Acid Storage Disease?
Prenatal hydrops fetalis associated with infantile free sialic acid storage disease due to a novel homozygous deletion in the SLC17A5 gene.
Tired of the same old research?
Check Latest Advances