{"id":218322,"date":"2024-09-12T07:23:49","date_gmt":"2024-09-12T05:23:49","guid":{"rendered":"http:\/\/staging.laboklin.com\/labogen\/labogen_wp\/glycogenspeicherkrankheit-gsdia"},"modified":"2024-09-12T07:23:49","modified_gmt":"2024-09-12T05:23:49","slug":"glycogenspeicherkrankheit-gsdia","status":"publish","type":"page","link":"https:\/\/labogen.com\/fi\/erbkrankheiten-hund\/glycogenspeicherkrankheit-gsdia\/","title":{"rendered":"Glycogenspeicherkrankheit GSDIa"},"content":{"rendered":"

Glycogen storage disease (GSD Ia)<\/h1>

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

Glycogen storage disease type I (GSD I) is caused by a dysfunction of the glycoregulation, which leads to accumulation of Glycogen in liver, muscle and nerve cells and their gradual dysfunction. Affected dogs show symptoms like depression, bad nutritional state and slow growth.<\/p>

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

German Pinscher, Maltese, Maltipoo<\/p>

Detailed description<\/summary>

Glycogen storage disease type 1 (GSD 1) is caused by a dysfunction of the glycose metabolism<\/strong>, which leads to mass storage of glycogen in organs. The ability to efficiently bind glucose to glycogen and break it down again depends on the highly branched structure of glycogen. The glycogen branching enzyme (GBE) is necessary for the formation of this branched structure, while the glycogen debranching enzyme (GDE) is necessary for its breakdown.<\/p>

The function of glycogen branching enzyme (GBE) is altered<\/strong> by a variant, that leads to a change in the structure of glycogen and inhibits its degradation. Therefore, accumulation of glycogen in liver, muscle and nerve cells<\/strong> results in gradual dysfunction of these organs<\/strong>. Affected puppies experience glucose deficiency very early after birth and exhibit symptoms like depression, bad nutritional state and slow growth<\/strong>.<\/p><\/p><\/details><\/div><\/div>

<\/div><\/div>

Glycogen Storage Disease GSD Ia - German Pinscher<\/h4>

The symptoms described in this breed can be found in the text above.<\/p><\/div>

Order details<\/summary>
Test number<\/strong><\/span><\/td>8322<\/td><\/tr>
Sample material<\/strong><\/td>0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)<\/td><\/tr>
Test duration<\/strong><\/td>7-14 working days<\/td><\/tr><\/table><\/details>
Test specifications<\/summary>
Symptom complex<\/strong><\/td>systemic<\/td><\/tr>
Inheritance<\/strong><\/td>autosomal recessive<\/td><\/tr>
Causality<\/strong><\/td>causally<\/td><\/tr>
Gene<\/strong><\/td>G6PC<\/td><\/tr>
Mutation<\/strong><\/td>INS<\/td><\/tr>
Literature<\/strong><\/td>OMIA:001577-9615<\/a><\/td><\/tr><\/table><\/details><\/div>
Order now ...<\/a><\/strong><\/div><\/div><\/div>
<\/div><\/div>

Glycogen Storage Disease GSD Ia - Maltese<\/h4>

The symptoms described in this breed can be found in the text above.<\/p><\/div>

Order details<\/summary>
Test number<\/strong><\/span><\/td>8322<\/td><\/tr>
Sample material<\/strong><\/td>0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)<\/td><\/tr>
Test duration<\/strong><\/td>7-14 working days<\/td><\/tr><\/table><\/details>
Test specifications<\/summary>
Symptom complex<\/strong><\/td>systemic<\/td><\/tr>
Inheritance<\/strong><\/td>autosomal recessive<\/td><\/tr>
Causality<\/strong><\/td>causally<\/td><\/tr>
Gene<\/strong><\/td>G6PC<\/td><\/tr>
Mutation<\/strong><\/td>C-G<\/td><\/tr>
Literature<\/strong><\/td>OMIA:000418-9615<\/a><\/td><\/tr><\/table><\/details><\/div>
Order now ...<\/a><\/strong><\/div><\/div><\/div>
<\/div><\/div>
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