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FC - Rare Diseases (MRCP) > Lysosomal Storage Disease > Flashcards

Lysosomal Storage Disease Flashcards

1
Q

Give 3 features of Fabry disease

A

Angiokeratoma
Peripheral neuropathy
Renal failure

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2
Q

What is accumulating in Fabry Disease?

A

Ceramide Trihexidose

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3
Q

What enzyme is deficient in Fabry disease?

A

Alpha-galactosidase A

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4
Q

What is the mode of inheritance for Fabry Disease?

A

X-linked recessive

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5
Q
A
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FC - Rare Diseases (MRCP) (5 decks)

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