Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease.

Abstract

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.

• Authors: M Renlund, F Tietze, W A Gahl
• Journal: Science (New York, N.Y.) (Science) Vol. 232 Issue 4751 Pg. 759-62 (May 09 1986) ISSN: 0036-8075 [Print] United States
• PMID: 3961501 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Hexosamines
• Sialic Acids
• N-Acetylneuraminic Acid
• N-acetylmannosamine

Topics

• Cell Fractionation
• Fibroblasts (drug effects, metabolism)
• Hexosamines (pharmacology)
• Humans
• Lysosomes (drug effects, metabolism)
• Metabolism, Inborn Errors (metabolism)
• N-Acetylneuraminic Acid
• Sialic Acids (analysis, metabolism)
• Subcellular Fractions (analysis)