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.

Descriptor ID	D029461
MeSH Number(s)	C10.228.140.163.100.435.810 C16.320.565.189.435.810 C16.320.565.595.554.810 C18.452.132.100.435.810 C18.452.648.189.435.810 C18.452.648.595.554.810
Concept/Terms	Sialic Acid Storage Disease Sialic Acid Storage Disease Sialuria Sialurias Infantile Sialic Acid Storage Disease 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 Salla Disease Sialuria, Finnish Type Finnish Type Sialuria Finnish Type Sialurias Sialurias, Finnish Type Sialic Acid Storage Disease, Finnish Type

Below are MeSH descriptors whose meaning is more general than "Sialic Acid Storage Disease".

Below are MeSH descriptors whose meaning is related to "Sialic Acid Storage Disease".

Below are MeSH descriptors whose meaning is more specific than "Sialic Acid Storage Disease".