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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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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
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.
Clinical features
The typical clinical sign in affected dogs is progressive ataxia with occasional nystagmus and behavioral abnormalities.
Additional information
References
Pubmed ID: 25875846
Omia ID: 1954