Salla disease

Common Name(s)

Salla disease, Sialic acid storage disease, severe infantile type, Infantile sialic acid storage disorder

Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life, followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures; ataxia; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Salla disease" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Salla disease" returned 8 free, full-text research articles on human participants. First 3 results:

Salla disease in Turkish children: severe and conventional type.
 

Author(s): Mahmut Coker, Sema Kalkan-Uçar, Omer Kitiş, Hakan Uçar, Damla Gökşen-Simşek, Sükran Darcan, Sarenur Gökben

Journal: Turk. J. Pediatr.. ;51(6):605-9.

 

Sialic acid storage disorder, known as Salla disease, is a rare autosomal recessive lysosomal disorder produced by a defect of a proton-driven carrier that is responsible for the efflux of sialic acid from the lysosomal compartment. We report two patients with Salla disease: a two-year-old ...

Last Updated: 3 Mar 2010

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Brain involvement in Salla disease.
 

Author(s): P Sonninen, T Autti, T Varho, M Hämäläinen, R Raininko

Journal: AJNR Am J Neuroradiol. 1999 Mar;20(3):433-43.

 

Our purpose was to document the nature and progression of brain abnormalities in Salla disease, a lysosomal storage disorder, with MR imaging.

Last Updated: 17 Jun 1999

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Increased brain glucose utilization in Salla disease (free sialic acid storage disorder).
 

Author(s): H Suhonen-Polvi, T Varho, L Metsähonkala, L Haataja, U Ruotsalainen, M Haaparanta, J Bergman, O Solin, T Aärimaa, I Holopainen, L Vainionpää, T Manner, S Jääskeläinen, M Renlund, M Sillanpää, P Aula

Journal: J. Nucl. Med.. 1999 Jan;40(1):12-8.

 

Salla disease is an autosomal recessive lysosomal free sialic acid storage disorder characterized by psychomotor retardation and ataxia. MRI studies have revealed evidence of dysmyelination, but the biological mechanism of the brain dysfunction is unknown.

Last Updated: 25 Feb 1999

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Reviews from the PubMed Database

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The terms "Salla disease" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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