Sialic Acid Storage Disease


Finnish Type Sialuria

Finnish Type Sialurias

French Type Sialuria

Infantile Form Sialuria

Infantile Form Sialurias

Infantile Sialic Acid Storage Disease

Infantile Sialic Acid Storage Disorder

Infantile Sialic Acid Storage Disorder (ISSD)

Salla Disease

Sialic Acid Storage Disease, Finnish Type

Sialic Acid Storage Disease, Infantile Form


Sialuria, Finnish Type

Sialuria, Infantile Form


Sialurias, Finnish Type

Sialurias, Infantile Form

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.