Neurodegenerative lysosomal storage disorder Flashcards
1
Q
How many distinct genetic LSDs are there?
A
50
2
Q
What determines the different types of disease?
A
What is stored
3
Q
What causes MPS?
A
An enzyme defect in the breakdown of glutamic acid decarboxylase (GAD).
4
Q
What is the difference between the MPS diseases?
A
Different GAD sugars being stored
5
Q
What is MPS I also known as?
A
Hurlers disease
6
Q
Explain what MPS I is
A
An autosomal recessive disorder that causes bone and joint problems
7
Q
What enzyme stored causes MPS III?
A
Heparin sulphate
8
Q
When GAG is stored in cells what can it cause?
A
Cell swelling, dysfunction and cell killing pathways partially blocked
9
Q
What can excess GAG in the blood cause?
A
Inflammation of the brain
