Definitions for sialic acid storage disease

This page provides all possible meanings and translations of the word sialic acid storage disease

U.S. National Library of MedicineRate this definition:(0.00 / 0 votes)

  1. Sialic Acid Storage Disease

    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.


Find a translation for the sialic acid storage disease definition in other languages:

Select another language:

Discuss these sialic acid storage disease definitions with the community:

Word of the Day

Would you like us to send you a FREE new word definition delivered to your inbox daily?

Please enter your email address:     


Use the citation below to add this definition to your bibliography:


"sialic acid storage disease." STANDS4 LLC, 2015. Web. 18 Apr. 2015. < acid storage disease>.

Are we missing a good definition for sialic acid storage disease? Don't keep it to yourself...

The Web's Largest Resource for

Definitions & Translations

A Member Of The STANDS4 Network

Nearby & related entries:

Alternative searches for sialic acid storage disease:

Thanks for your vote! We truly appreciate your support.