{"id":7195,"date":"2020-09-02T15:49:39","date_gmt":"2020-09-02T13:49:39","guid":{"rendered":"http:\/\/localhost\/bhc-dev\/de\/2020\/09\/02\/high-incidence-of-%ce%b1-mannosidosis-in-mps-like-phenotypes-2-2\/"},"modified":"2022-01-07T09:56:50","modified_gmt":"2022-01-07T09:56:50","slug":"high-incidence-of-%ce%b1-mannosidosis-in-mps-like-phenotypes-2-2","status":"publish","type":"post","link":"https:\/\/www.babyhealthcheck.com\/de\/high-incidence-of-%ce%b1-mannosidosis-in-mps-like-phenotypes-2-2\/?lang=en","title":{"rendered":"High incidence of \u03b1-Mannosidosis in \u2018MPS-like\u2019 phenotypes"},"content":{"rendered":"\n<p>\u03b1-Mannosidosis is an inherited lysosomal storage disorder caused by genetic mutations leading to limited or no expression of a gene responsible for metabolizing oligosaccharides.<\/p>\n\n\n\n<p>Besides the low awareness for \u03b1-mannosidosis, clinical assessment based on phenotypic data and clinical symptoms is challenging, especially in contrast to mucopolysaccharidosis (MPS). In a pilot study, we investigated the addition of \u03b1-mannosidase enzyme activity analysis in individuals suspicious of MPS.<\/p>\n\n\n\n<blockquote class=\"wp-block-quote\"><p><strong>Although&nbsp;\u03b1-Mannosidosis is considered to be ultra-rare, studies indicate it may be underdiagnosed.<\/strong><\/p><\/blockquote>\n\n\n\n<p>We analyzed \u03b1-mannosidase activity in over 1,000 residual DBS samples previously tested for&nbsp;<a rel=\"noreferrer noopener\" href=\"https:\/\/www.archimedlife.com\/mucopolysaccharidosis-mps-diagnostics-enzyme-genetics\/\" target=\"_blank\">six different MPS types<\/a>. Our study identified four \u03b1-mannosidosis positive patients who were originally suspected of an MPS. These results underline the necessity for diagnostic initiatives as well as a general discussion in the community of lysosomal storage diseases. The study and our results can be read in&nbsp;<a rel=\"noreferrer noopener\" href=\"https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S1096719220300998?via%3Dihub\" target=\"_blank\">Molecular Genetics and Metabolism<\/a>.<\/p>\n\n\n\n<p>Our Medical Laboratory offers differential tests and diagnostic panels for Lysosomal Storage Disorders including \u03b1-mannosidosis and&nbsp;<a rel=\"noreferrer noopener\" href=\"https:\/\/www.archimedlife.com\/mps\/\" target=\"_blank\">mucopolysaccharidoses<\/a>. Genetic confirmatory testing is available usually on the same DBS sample.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>\u03b1-Mannosidosis is an inherited lysosomal storage disorder caused by genetic mutations leading to limited or no expression of a gene responsible for metabolizing oligosaccharides. Besides the low awareness for \u03b1-mannosidosis, clinical assessment based on phenotypic data and clinical symptoms is challenging, especially in contrast to mucopolysaccharidosis (MPS). In a pilot study, we investigated the addition<\/p>\n","protected":false},"author":1,"featured_media":7219,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":[],"categories":[14],"tags":[],"acf":[],"uagb_featured_image_src":{"full":["https:\/\/www.babyhealthcheck.com\/de\/wp-content\/uploads\/sites\/10\/2020\/09\/baby-with-band-1.png",456,255,false],"thumbnail":["https:\/\/www.babyhealthcheck.com\/de\/wp-content\/uploads\/sites\/10\/2020\/09\/baby-with-band-1.png",150,84,false],"medium":["https:\/\/www.babyhealthcheck.com\/de\/wp-content\/uploads\/sites\/10\/2020\/09\/baby-with-band-1.png",300,168,false],"medium_large":["https:\/\/www.babyhealthcheck.com\/de\/wp-content\/uploads\/sites\/10\/2020\/09\/baby-with-band-1.png",456,255,false],"large":["https:\/\/www.babyhealthcheck.com\/de\/wp-content\/uploads\/sites\/10\/2020\/09\/baby-with-band-1.png",456,255,false],"1536x1536":["https:\/\/www.babyhealthcheck.com\/de\/wp-content\/uploads\/sites\/10\/2020\/09\/baby-with-band-1.png",456,255,false],"2048x2048":["https:\/\/www.babyhealthcheck.com\/de\/wp-content\/uploads\/sites\/10\/2020\/09\/baby-with-band-1.png",456,255,false]},"uagb_author_info":{"display_name":"admin","author_link":"https:\/\/www.babyhealthcheck.com\/de\/author\/admin\/"},"uagb_comment_info":0,"uagb_excerpt":"\u03b1-Mannosidosis is an inherited lysosomal storage disorder caused by genetic mutations leading to limited or no expression of a gene responsible for metabolizing oligosaccharides. Besides the low awareness for \u03b1-mannosidosis, clinical assessment based on phenotypic data and clinical symptoms is challenging, especially in contrast to mucopolysaccharidosis (MPS). In a pilot study, we investigated the addition","_links":{"self":[{"href":"https:\/\/www.babyhealthcheck.com\/de\/wp-json\/wp\/v2\/posts\/7195"}],"collection":[{"href":"https:\/\/www.babyhealthcheck.com\/de\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.babyhealthcheck.com\/de\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.babyhealthcheck.com\/de\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.babyhealthcheck.com\/de\/wp-json\/wp\/v2\/comments?post=7195"}],"version-history":[{"count":1,"href":"https:\/\/www.babyhealthcheck.com\/de\/wp-json\/wp\/v2\/posts\/7195\/revisions"}],"predecessor-version":[{"id":7221,"href":"https:\/\/www.babyhealthcheck.com\/de\/wp-json\/wp\/v2\/posts\/7195\/revisions\/7221"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.babyhealthcheck.com\/de\/wp-json\/wp\/v2\/media\/7219"}],"wp:attachment":[{"href":"https:\/\/www.babyhealthcheck.com\/de\/wp-json\/wp\/v2\/media?parent=7195"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.babyhealthcheck.com\/de\/wp-json\/wp\/v2\/categories?post=7195"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.babyhealthcheck.com\/de\/wp-json\/wp\/v2\/tags?post=7195"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}