{"id":726,"date":"2024-05-01T16:13:48","date_gmt":"2024-05-01T16:13:48","guid":{"rendered":"https:\/\/www.chiesimedical.co.uk\/patient\/?page_id=726"},"modified":"2024-10-15T14:57:02","modified_gmt":"2024-10-15T14:57:02","slug":"alpha-mannosidosis","status":"publish","type":"page","link":"https:\/\/www.chiesimedical.co.uk\/patient\/therapy-areas\/rare-diseases\/alpha-mannosidosis\/","title":{"rendered":"Alpha-mannosidosis"},"content":{"rendered":"\n
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Alpha-mannosidosis<\/h2>\n <\/div>\n <\/a>\n \n \n
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Fabry disease<\/h2>\n <\/div>\n <\/a>\n \n \n
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Nephropathic cystinosis<\/h2>\n <\/div>\n <\/a>\n \n \n
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Beta-thalassaemia<\/h2>\n <\/div>\n <\/a>\n \n \n
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Leber hereditary optic neuropathy<\/h2>\n <\/div>\n <\/a>\n \n \n
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Homozygous familial hypercholesterolemia<\/h2>\n <\/div>\n <\/a>\n \n \n
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Lipodystrophy<\/h2>\n <\/div>\n <\/a>\n \n \n
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Epidermolysis bullosa<\/h2>\n <\/div>\n <\/a>\n <\/div>\n\n\n\n

Alpha-mannosidosis<\/h2>\n\n\n\n

Alpha-mannosidosis is an ultra-rare genetic disorder caused by a change in the MAN2B1 <\/em>gene.1\u20133<\/sup> This change results in the deficiency of an enzyme called alpha-mannosidase, which is essential for breaking down many complex sugars in the body.1,2<\/sup> The lack of this enzyme leads to a build-up of mannose-rich oligosaccharides, a type of carbohydrate, throughout the body and can cause various signs and symptoms.1,2<\/sup><\/p>\n\n\n\n

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Alpha-mannosidosis is also known as:3<\/sup><\/p>\n\n\n\n

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  • Alpha-mannosidase B deficiency<\/li>\n\n\n\n
  • Lysosomal alpha-D-mannosidase deficiency<\/li>\n\n\n\n
  • Mannosidosis<\/li>\n\n\n\n
  • Lysosomal alpha B mannosidosis<\/li>\n<\/ul>\n<\/div>\n\n\n\n
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