Abstract
© 2007 Springer Science+Business Media, LLC. All rights reserved. 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.
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