Definition: 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.
Other names Sialurias, Infantile Form; Sialurias, Finnish Type; Sialurias; Infantile Form Sialurias; Infantile Form Sialuria; Finnish Type Sialurias; Finnish Type Sialuria; Infantile sialic acid storage disorder (ISSD); Infantile Sialic Aid Storage Disorder; Sialuria, Infantile Form; Sialuria, Finnish Type; Sialic Acid Storage Disease, Infantile Form; Sialic Acid Storage Disease, Finnish Type; Salla Disease; Infantile Sialic Acid Storage Disease; Sialuria
