kr667,40 kr551,57 ekskl. mva
Lagotto Storage Disease is a metabolic disorder that is caused by enzyme deficiencies within the lysosome, resulting in the accumulation of undegraded substrates.
10 Arbeidsdager
Spesifikasjoner
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Generell informasjon
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.
Kliniske egenskaper
Det typiske kliniske tegnet hos berørte hunder er progressiv ataksi med sporadisk nystagmus og atferdsavvik.
Tilleggsinformasjon
Referanser
Pubmed ID: 25875846
Omia ID: 1954