Sialic Acid Storage Disease

Overview

Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that result in accumulation of free sialic acid (N-ACETYLNEURAMINIC ACID) within the lysosomes. The two main clinical phenotypes, which are allelic variants of the SLC17A5 gene, are ISSD, a severe infantile form, or Salla disease, a slowly progressive adult form, named for the geographic area in Finland where the kindred first studied resided.

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about Sialic Acid Storage Disease

Topic type

Condition

Category

Neurology

MeSH classification

C10.228.140.163.100.435.810|C16.320.565.189.435.810|C16.320.565.595.554.810|C18.452.132.100.435.810|C18.452.648.189.435.810|C18.452.648.595.554.810

Preparing for an appointment about Sialic Acid Storage Disease

If you are speaking with a healthcare professional about Sialic Acid Storage Disease, it can help to prepare a few details in advance.

• Write down your symptoms and when they started.
• Bring details of any medicines, supplements or previous treatments.
• Ask what tests or assessments may be needed.
• Ask what treatment or management options may be suitable.
• Ask when you should seek urgent medical help or follow-up care.

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