Lysosomal Free Sialic Acid Storage Disorders: Salla Disease and ISSD

  • Amanda Helip-Wooley
  • Robert Kleta
  • William A. Gahl

Salla disease and infantile free sialic acid storage disease (ISSD) are rare disorders of free sialic acid storage characterized by accumulation of the monosaccharide sialic acid (N-acetylneuraminic acid) in lysosomes. These disorders should be distinguished from sialuria in which free sialic acid accumulates in the cytoplasm. All three disorders present with increased excretion of free sialic acid in the urine. Only Salla disease and ISSD are discussed here in detail.


Sialic Acid Lysosomal Membrane Lysosomal Storage Disorder Chorionic Villus Sample Coarse Facial Feature 
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Copyright information

© Springer Science+Business Media, LLC 2007

Authors and Affiliations

  • Amanda Helip-Wooley
    • 1
  • Robert Kleta
    • 1
  • William A. Gahl
    • 1
  1. 1.Section on Human Biochemical Genetics, Medical Genetics BranchNational Human Genome Research Institute, NIHBethesdaUSA

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