Chapter 16: Lipid Mobilization and Catabolism (continued) Flashcards
1
Q
What is the only X-linked recessive sphingolipidosis?
A
Fabry disease
2
Q
What is the pathology of Fabry disease?
A
caused by a mutation in the gene that encodes the lysosomal enzyme alpha galactosidase
3
Q
What product accumulates in the lysosomes of those with Fabry disease?
A
ceramide trihexoside
4
Q
What are some symptoms in someone who has Fabry disease?
A
- Burning sensations in the hands which gets worse with exercise and hot weather
- small raised reddish-purple blemishes on the skin (angiokeratomas)
- eye manifestations, especially cloudiness of the cornea
- increased risk of cardiovascular disease, stroke
- renal failure is often the cause of death
5
Q
How to treat Fabry disease?
A
enzyme replacement therapy is available
