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.
Inga svenska synonymer finns.
Sialuria — Sialurias — Infantile Sialic Acid Storage Disease — French Type Sialuria — Sialic Acid Storage Disease, Infantile Form — Sialuria, Infantile Form — Infantile Form Sialuria — Infantile Form Sialurias — Sialurias, Infantile Form — Infantile Sialic Acid Storage Disorder — Infantile Sialic Acid Storage Disorder (ISSD) — Salla Disease — Sialuria, Finnish Type — Finnish Type Sialuria — Finnish Type Sialurias — Sialurias, Finnish Type — Sialic Acid Storage Disease, Finnish Type