{"id":248513,"date":"2024-09-12T07:23:58","date_gmt":"2024-09-12T05:23:58","guid":{"rendered":"http:\/\/staging.laboklin.com\/labogen\/labogen_wp\/glycogen-storage-disease-gsd-ii-pompe-disease"},"modified":"2024-09-12T07:23:58","modified_gmt":"2024-09-12T05:23:58","slug":"glycogen-storage-disease-gsd-ii-pompe-disease","status":"publish","type":"page","link":"https:\/\/labogen.com\/en\/genetic-diseases-dog\/glycogen-storage-disease-gsd-ii-pompe-disease\/","title":{"rendered":"Glycogen storage disease (GSD II) (Pompe disease)"},"content":{"rendered":"

Glycogen storage disease (GSD II) (Pompe disease)<\/h1>

General description<\/strong><\/h4>

Pompe disease is caused by the deficiency of glucosidase leading to abnormal storage of glucose in lysosomes. Affected dogs suffer from vomiting, progressive muscle weakness and loss of condition. Heart disease leads to death at about 1.5 years of age.<\/p>

Breeds<\/span><\/strong><\/h4>

Finnish Lapponian Dog, Lapponian Herder, Swedish Lapphund<\/p><\/div>

Order details<\/summary>
Test number<\/strong><\/span><\/td>8513<\/td><\/tr>
Abbreviation<\/strong><\/td>GSD II<\/td><\/tr>
Sample material<\/strong><\/td>0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)<\/td><\/tr>
Test duration<\/strong><\/td>3-14 working days<\/td><\/tr><\/table><\/details>
Test specifications<\/summary>
Symptom complex<\/strong><\/td>systemic<\/td><\/tr>
Inheritance<\/strong><\/td>autosomal recessive<\/td><\/tr>
Age of onset<\/strong><\/td>from birth<\/td><\/tr>
Causality<\/strong><\/td>causally<\/td><\/tr>
Gene<\/strong><\/td>GAA<\/td><\/tr>
Mutation<\/strong><\/td>C-T<\/td><\/tr>
Literature<\/strong><\/td>OMIA:000419-9615<\/a><\/td><\/tr><\/table><\/details><\/div>
Order now ...<\/a><\/strong><\/div><\/div><\/div>
<\/div><\/div>
Detailed description<\/summary>

This autosomal recessive metabolic disorder is caused by a defect in the glucosidase enzyme<\/strong>. This leads to an accumulation of glucose in the lysosomes. Affected dogs suffer from frequent vomiting, progressive muscle weakness, loss of condition and heart failure<\/strong>, which ultimately leads to death at the age of 1.5 years.<\/p><\/details><\/div>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":0,"parent":8791,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-248513","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/labogen.com\/en\/wp-json\/wp\/v2\/pages\/248513","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/labogen.com\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/labogen.com\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/labogen.com\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/labogen.com\/en\/wp-json\/wp\/v2\/comments?post=248513"}],"version-history":[{"count":0,"href":"https:\/\/labogen.com\/en\/wp-json\/wp\/v2\/pages\/248513\/revisions"}],"up":[{"embeddable":true,"href":"https:\/\/labogen.com\/en\/wp-json\/wp\/v2\/pages\/8791"}],"wp:attachment":[{"href":"https:\/\/labogen.com\/en\/wp-json\/wp\/v2\/media?parent=248513"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}