Defective Sialic Acid Egress from Isolated Fibroblast Lysosomes of Patients with Salla Disease

Normal fibroblasts exposed to N-acetylmannosamine yielded lysosome-rich granular fractions loaded with free (unbound) sialic acid, whose velocity of egress increased with increasing initial loading. Fibroblast granular fractions of patients with Salla disease exhibited negligible egress of sialic ac...

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Bibliographic Details
Published in:Science (American Association for the Advancement of Science) 1986-05, Vol.232 (4751), p.759-762
Main Authors: Renlund, Martin, Tietze, Frank, Gahl, William A.
Format: Article
Language:English
Subjects:
Acids
Biological and medical sciences
Carbohydrates
Carbohydrates (enzymatic deficiencies). Glycogenosis
Cell Fractionation
Cell permeability
Cell research
Cells
Cytological research
Disease
Diseases
Enzymes
Errors of metabolism
Fibric acids
Fibroblasts
Fibroblasts - drug effects
Fibroblasts - metabolism
Hexosamines - pharmacology
Humans
Kinetics
Lysosomes
Lysosomes - drug effects
Lysosomes - metabolism
Medical research
Medical sciences
Metabolic diseases
Metabolism, Inborn Errors - metabolism
N-Acetylneuraminic Acid
Nervous system diseases
Permeability
Proteins
Sialic acid storage disease
Sialic Acids - analysis
Sialic Acids - metabolism
Subcellular Fractions - analysis
Vitamin B12
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Summary:Normal fibroblasts exposed to N-acetylmannosamine yielded lysosome-rich granular fractions loaded with free (unbound) sialic acid, whose velocity of egress increased with increasing initial loading. Fibroblast granular fractions of patients with Salla disease exhibited negligible egress of sialic acid, whether endogenous or derived from N-acetylmannosamine exposure. Salla disease represents the first disorder demonstrated to be caused by defective transport of a monosaccharide out of cellular lysosomes.
ISSN:0036-8075
1095-9203
DOI:10.1126/science.3961501