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Glycogen Storage Diseases (GSDs) are a group of genetic metabolic disorders caused by defects in enzymes involved in glycogen metabolism.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 24 |
| Mutation | c.1044+1G>T |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | GSD |
Informations générales
Glycogen Storage Diseases (GSDs) are a group of genetic metabolic disorders caused by defects in enzymes involved in glycogen metabolism. This test detects a mutation in the RanBP-type and C3HC4-type zinc finger containing 1 (RBCK1) gene. This gene is associated with Polyglucosan Body Myopathy Type 1 (PGBM1) in Basset Hounds. The variant results in the accumulation of abnormal glycogen, known as polyglucosan bodies, in muscle and cardiac tissues. PGBM1 is inherited in an autosomal recessive manner.
Caractéristiques cliniques
Affected dogs typically develop progressive muscle weakness, reduced exercise tolerance and signs of cardiac disease as they mature ( between 3 and 6 years of age). Accumulation of abnormal glycogen within cardiac tissue can lead to cardiomyopathy, and in some cases the first clinical signs may be sudden collapse or sudden death due to heart failure. Early signs are often subtle and may include lethargy, mild exercise intolerance, or respiratory difficulties.
Additional Information
Références
Pubmed ID: 40939526
Year published: 2025
Omia ID: 3010
Omia variant ID: 1833