Sialic Acid Storage Disease
Free sialic acid storage disorders are a group of related disorders characterised by the abnormal accumulation of sialic acid in various cells and tissues of the body. They are inherited through autosomal recessive inheritance.
There are three subtypes:
- Infantile free sialic acid storage disease (ISSD) which is the most severe;
- Intermediate Salla disease
- Salla disease, the mildest form
Symptoms can vary greatly but all forms are characterised by a degree of neurodegeneration and cognitive impairment.
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