About The Medical Condition Infantile Sialic Acid Storage Disease
Find the definition of the medical term Infantile Sialic Acid Storage Disease. Infantile Sialic Acid Storage Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Infantile Sialic Acid Storage Disease
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What's The Definition Of The Medical Condition Infantile 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.
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