Free sialic acid storage disease

rare

Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD).

Identifiers: MONDO:0019366 Orphanet:834
Part of: Inborn disorder of lysosomal amino acid transport

Subtypes

All diseases Rare only

Disease

Salla disease MONDO:0011449 SLC17A5
Free sialic acid storage disease, infantile form MONDO:0010027 SLC17A5
Intermediate severe Salla disease MONDO:0017737
Sialuria MONDO:0010028 GNE

Projects

Including projects on subtypes.

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