Lipid storage disorders Flashcards
1
Q
How is Fabry disease inherited?
A
XLR
2
Q
Which enzyme is deficient in Fabry disease?
A
alpha-galactosidase A
3
Q
Which sphingolipid accumulates in Fabry disease?
A
globotriaosylceramide (Gb3), aka ceramide trihexosidase
4
Q
What are the clinical features of Fabry disease?
A
Neuropathic pain, angiokeratomas, telengiactasias, glomerular disease (renal failure), CV disease (TIA, stroke), cardiac disease (LVH)
5
Q
When do the earliest symptoms present in Fabry disease
A
Adolescence as neuropathic pain and hypohidrosis
