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Fucosidosis

Definition:

Fucosidosis is an autosomal recessive lysosomal storage disease caused by deficient activity of alpha fucosidase. The enzymatic defect results in the accumulation of a variety of fucose-rich storage products of glycoproteins and glycolipids in many organs. The disease is classified into two types: type 1 for severe phenotypes and type 2 for milder phenotypes.

References:

[1]. Bryan Winchester, et al. Lysosomal metabolism of glycoproteins. Glycobiology. 2005 Jun;15(6):1R-15R. [Content Brief]

[2]. Claude Abdallah, et al. Anesthesia for fucosidosis. Paediatr Anaesth. 2007 Oct;17(10):994-7. [Content Brief]

[3]. J C Michalski, et al. Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. Biochim Biophys Acta. 1999 Oct 8;1455(2-3):69-84. [Content Brief]

[4]. P J Willems, et al. Spectrum of mutations in fucosidosis. Eur J Hum Genet. 1999 Jan;7(1):60-7. [Content Brief]

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