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.
Also Known As:
Salla Disease; Sialuria; French Type Sialuria; Infantile Sialic Acid Storage Disorder; Infantile Sialic Acid Storage Disorder (ISSD); Finnish Type Sialuria; Finnish Type Sialurias; Infantile Form Sialuria; Infantile Form Sialurias; Sialurias; Sialurias, Finnish Type; Sialurias, Infantile Form; Infantile Sialic Acid Storage Disease; Sialic Acid Storage Disease, Finnish Type; Sialic Acid Storage Disease, Infantile Form; Sialuria, Finnish Type; Sialuria, Infantile Form