Fabry disease Flashcards
1
Q
inheritance of Fabry disease
A
X-linked recessive
2
Q
features of fabry disease?
A
burning pain/paraesthesia in childhood
angiokeratomas
lens opacities
proteinuria
early cardiovascular disease
raised red spots around his upper lip, abdomen, and upper thighs
decreased ability to sweat (hypohidrosis)
ringing in the ears (tinnitus) and hearing loss.
3
Q
what enzyme activity is reduced
A
enzyme activity of alpha-galactosidase
