Free sialic acid storage disease

What is the cause of free sialic acid storage diseases?

Free sialic acid storage diseases are caused by genetic changes in the SLC17A5 gene. The specific change in the gene determines the severity of the disease.

Last updated on 05-01-20

How are free sialic acid storage diseases diagnosed?

Free sialic acid storage diseases are diagnosed based on the symptoms. When these conditions are suspected, the diagnosis is made through laboratory testing to look for high levels of free sialic acid in urine, as well as imaging studies to look for abnormalities in the brain. Genetic testing is also helpful and can help tell between the Salla disease and the more severe forms.

Last updated on 05-01-20

How are free sialic acid storage diseases inherited?

Free sialic acid storage diseases are inherited in an autosomal recessive pattern. All individuals inherit two copies of each gene. To have a free sialic acid storage disease, a person must have a mutation in both copies of the SLC17A5 gene in each cell. There is nothing either parent can do, before or during pregnancy, to cause a child to have this.

People with autosomal recessive conditions inherit one mutation from each of their parents. The parents, who each have one mutation, are known as carriers. Carriers of an autosomal recessive disorder typically do not have any signs or symptoms (they are unaffected). When two carriers of an autosomal recessive condition have children, each child has a:

• 25% (1 in 4) chance to have the disorder
• 50% (1 in 2) chance to be an unaffected carrier like each parent
• 25% (1 in 4) chance to be unaffected and not be a carrier

Last updated on 05-01-20

What is the long-term outlook for people with free sialic acid storage disorders?

All forms of free sialic acid storage disease are progressive, meaning the symptoms get worse over time. The infantile form is rapidly progressive and children with this form typically only live until early childhood. Life expectancy for the less severe form of free sialic acid storage disease appears to be shortened, although affected individuals have lived into their seventies.

Last updated on 05-01-20

How many people have free sialic acid storage diseases?

Free sialic acid storage diseases are very rare, with fewer than 200 reported cases in the literature. Salla disease is more common in Finland and Sweden.

Last updated on 05-01-20

How might free sialic acid storage diseases be treated?

There is no specific treatment for the free sialic acid storage diseases. Treatment is focused on specific symptoms and on providing comfort and support for patients and their families.

Last updated on 05-01-20

Where To Start

Salla Treatment and Research Foundation link

The Salla Treatment and Research Foundation offers a description of Salla disease and features stories of children living with this rare condition.

Last updated on 04-27-20

Name: Hide and Seek Foundation for Lysosomal Storage Disease Research 6475 East Pacific Coast Highway Suite 466
Long Beach, CA, 90803 , United States
Toll Free: (844) 762-7672 Email: info@hideandseek.org Url: https://hideandseek.org
Name: Alex The Leukodystrophy Charity Alex TLC 45 Peckham High Street
London, SE15 5EB, United Kingdom
Phone: 020 7701 4388 Email: info@alextlc.org Url: https://www.alextlc.org
Name: Salla Treatment and Research Foundation PO Box 1051 Riverdale Station
Bronx, NY, 10471, United States
Email: https://www.sallaresearch.org/contact-us Url: https://www.sallaresearch.org/
Barmherzig R, Bullivant G, Cordeiro D, Sinasac DS, Blaser S, Mercimek-Mahmutoglu S. A new patient with intermediate severe Salla disease with hypomyelination: A literature review for Salla disease. Pediatr Neurol. Sept 2017; 74. 87-91.e2. Reference Link Adams D, Gahl WA. Free Sialic Acid Storage Disorders GeneReviews. Updated June 6, 2013; Reference Link Free Sialic Acid Storage Disorders National Organization for Rare Disorders (NORD). Updated 2016; Reference Link

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