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Open AccessReview

Alpha-Mannosidosis: Therapeutic Strategies

1
Department of Pharmaceutical Sciences; University of Perugia, Via Fabretti 48, 06123 Perugia, Italy
2
MAGI Human Medical Genetics Institute; laboratory of genetic diagnosis of rare diseases, 38068 Rovereto, Italy
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2018, 19(5), 1500; https://doi.org/10.3390/ijms19051500
Received: 19 April 2018 / Revised: 4 May 2018 / Accepted: 15 May 2018 / Published: 17 May 2018
(This article belongs to the Special Issue Rare Diseases: Molecular Mechanisms and Therapeutic Strategies)
Alpha-mannosidosis (α-mannosidosis) is a rare lysosomal storage disorder with an autosomal recessive inheritance caused by mutations in the gene encoding for the lysosomal α-d-mannosidase. So far, 155 variants from 191 patients have been identified and in part characterized at the biochemical level. Similarly to other lysosomal storage diseases, there is no relationship between genotype and phenotype in alpha-mannosidosis. Enzyme replacement therapy is at the moment the most effective therapy for lysosomal storage disease, including alpha-mannosidosis. In this review, the genetic of alpha-mannosidosis has been described together with the results so far obtained by two different therapeutic strategies: bone marrow transplantation and enzyme replacement therapy. The primary indication to offer hematopoietic stem cell transplantation in patients affected by alpha-mannosidosis is preservation of neurocognitive function and prevention of early death. The results obtained from a Phase I–II study and a Phase III study provide evidence of the positive clinical effect of the recombinant enzyme on patients with alpha-mannosidosis. View Full-Text
Keywords: alpha-d-mannosidase; alpha-mannosidosis; enzyme replacement therapy; lysosomes alpha-d-mannosidase; alpha-mannosidosis; enzyme replacement therapy; lysosomes
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MDPI and ACS Style

Ceccarini, M.R.; Codini, M.; Conte, C.; Patria, F.; Cataldi, S.; Bertelli, M.; Albi, E.; Beccari, T. Alpha-Mannosidosis: Therapeutic Strategies. Int. J. Mol. Sci. 2018, 19, 1500.

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