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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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Specifiche
| Razza | |
|---|---|
| Gene | |
| Cromosoma | 24 |
| Mutation | c.1044+1G>T |
| Tipo di Ereditarietà | Autosomico Recessivo |
| Organo | |
| Campione | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
| Also known as | GSD |
Informazioni generali
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.
Caratteristiche cliniche
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.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 40939526
Year published: 2025
Omia ID: 3010
Omia variant ID: 1833