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Lagotto Storage Disease is a metabolic disorder that is caused by enzyme deficiencies within the lysosome, resulting in the accumulation of undegraded substrates.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 20 |
| Mutation | c.1288G>A |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | Lagotto storage disease; LSD; Aberrant Autophagy |
Informations générales
Lagotto Storage Disease is a metabolic disorder that is caused by enzyme deficiencies within the lysosome, resulting in the accumulation of undegraded substrates. The disorder is also known as Lysosomal Storage Disease (LSD), aberrant autophagy or Neurodegenerative Vacuolar Storage Disease. An autosomal recessive mutation in the ATG4D gene causes this LSD, which is observed in the Lagotto Romagnolo.
Caractéristiques cliniques
Le signe clinique typique chez les chiens affectés est ataxie progressive avec le nystagme occasionnel et les anomalies comportementales.
Additional Information
Références
Pubmed ID: 25875846
Year published: 2015
Omia ID: 1954
Omia variant ID: 94