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beta-Mannosidosis

Definition:

Beta-Mannosidosis is an autosomal recessive lysosomal storage disorder caused by deficient activity of beta-mannosidase. This disorder is characterized by mental retardation, behavioural problems, hearing loss, recurrent respiratory infections, angiokeratoma, facial dysmorphism, skeletal deformation, seizures, hypotonia, demyelinating polyneuropathy, and hepatosplenomegaly.

References:

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

[2]. 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]

[3]. Pierre Labauge, et al. Beta-mannosidosis: a new cause of spinocerebellar ataxia. Clin Neurol Neurosurg. 2009 Jan;111(1):109-10. [Content Brief]

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