Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders


The gene product is a lysosomal solute transport whose mutations cause sialic acid storage disease.

Test Strategy

In patients whose predecessors come from Finland, screening for target mutations might be sufficient. But in the isolated cases that might occur world wide, analysing the whole gene is more appropriate.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Salla disease
Infantile sialic acid storage disorder



Verheijen FW et al. (1999) A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.


Aula N et al. (2000) The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.


Kleta R et al. (2004) Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity.


Strauss KA et al. (2005) Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population.


Biancheri R et al. (2005) Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.


Morse RP et al. (2005) Novel form of intermediate salla disease: clinical and neuroimaging features.

Update: Sept. 26, 2018