Sialic acid storage diseases
Evidence-based neurology checklist on sialic acid storage diseases: Genetics and pathology These are lysosomal storage disorders They are caused by mutations in the SLC17A5 gene on chromosome 6 The transmission is autosomal recessive The gene encodes sialin The mutations impair sialic acid…
Genetics and pathology
- These are lysosomal storage disorders
- They are caused by mutations in the SLC17A5 gene on chromosome 6
- The transmission is autosomal recessive
- The gene encodes sialin
- The mutations impair sialic acid metabolism
- This results in sialic acid accumulation in tissue lysosomes
Types
Salla disease: clinical features
Infantile free sialic acid storage disease (ISSD): clinical features
Cerebellar ataxia with free sialic acid (CAFSA): clinical features
Magnetic resonance imaging (MRI) brain: features
Other investigations
References
- Morse RP, Kleta R, Alroy J, Gahl WA. Novel form of intermediate salla disease: clinical and neuroimaging features. J Child Neurol 2005; 20:814-816.
- Kleta R, Morse RP, Orvisky E, et al. Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity. Mol Genet Metab 2004; 82:137-143.
- Mochel F, Yang B, Barritault J, et al. Free sialic acid storage disease without sialuria. Ann Neurol 2009; 65:753-757.
- Sonninen P, Autti T, Varho T, Hämäläinen M, Raininko R. Brain involvement in Salla disease. Am J Neuroradiol 1999; 20:433-443.
- Mochel F, Sedel F, Vanderver A, et al. Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA). Brain 2009; 132:801-809.
