Salla disease is a form of a sialic acid storage disorder in which saliac acid accumulates in the lysosomes of the patients. This storage is being caused by a deficiency of an enzyme that contributes to the breakdown saliac acid. 

Salla disease is one of the 3 existing forms of saliac acid storage disorders. The other two forms are: 

1. infantile free sialic acid storage disease (ISSD)
2. intermediate severe Salla disease

Salla disease is the mildest form of these 3 types. 

Sialic acid storage disorders are very rare with an estimated incidence of 0.07 in every 100,000 births. 

Salla disease is an autosomal recessive disorder caused by a mutation in the SLC17A5 gene. Autosomal recessive means that the affected child inherited the mutated SLC17A5 gene from each of its parents. Due to this mutation a deficiency of the protein called sialin occurs. This protein is located in the lysosomes of the cells. In healthy patients sialin helps to breakdown the saliac acid in the lysosomes. Because patients with a saliac acid storage disorder have a deficiency in sialin, the saliac acid accumulates in the lysosomes of the cells. This causes various symptoms.  

Salla disease is the less severe form of the sialic acid storage disorders. Infants with this disorder are hypotonic and have motor developmental delays. One-third of the children never learn to walk or learn very late (later than the 5th year of life). The children suffer from ataxia, spasticity, epilepsy and a delay in the mental development with an IQ generally below 20 in adulthood. Speech is absent or reduced to a single word. Life expectancy is generally shortened to about 50 years.

If the doctor suspects that you or your child may have Salla disease, he or she will do a number of tests to make the diagnosis. The following tests may be involved:

• Physical examination 

• Urine sampling

• Skin biopsy 

• DNA test

Unfortunately, there is currently no curative treatment for patients with a sialic acid storage disorder acidosis. Treatment consists of treating or preventing symptoms.

Patients with Salla disease will need to be followed throughout their lives. Because patients deal with a variety of symptoms, patients will see different specialists. 

Our scheduling coordinator will schedule the appointments for you. To minimize hospital visits for you and/or your child, we will try to schedule appointments with different specialists on the same day whenever possible. 

Please also visit our team page to meet our specialists.