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Sialic acid storage disorders: observations on clinical and biochemical variation
G M Mancini1, F W Verheijen, C E Beerens
1Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands.
Developmental Neuroscience
|January 1, 1991
Abstract:
Lysosomal accumulation of free sialic acid results in two phenotypically distinct inherited metabolic disorders, Salla disease and infantile sialic acid storage disease. Clinical and biochemical findings in both diseases are reviewed. Recent studies indicate that sialic acid storage is a consequence of defective function of a lysosomal membrane transport system specific for sialic acid and some other acidic monosaccharides.