Lysosomal storage disorders

Question 1

Cause & presentation

Answer 1

• due to a genetic abnormality blocking metabolic pathways in the cell there’s accumulation of by-products of metabolism with lysosomes which eventually results in cell death
• as there is no regeneration of neurones, these diseases often manifest with neurological disorders

Question 2

Prevalence

Answer 2

• these diseases are for the most part very rare, except: L2-HGA (hydroxyglutaric aciduria)

Question 3

L2-HGA (hydroxyglutaric aciduria)
- CS
- signalment
- diagnosis
- tx/prevention

Answer 3

• progressive degenerative dz seen in Staffies (seizures, behavioural change, stiffness, etc)
• young onset: 4m-6y
• diagnosis: screening DNA test
• no effective tx, will progress
• very active breeding DNA screening programme