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Biochemistry > Lysosomal Storage Diseases > Flashcards

Lysosomal Storage Diseases Flashcards

1
Q

Accumulation of sphingomyelin? Inheritance?

A

Niemann-Pick Disease; AR

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2
Q

8th month old son loses previously acquired motor skills+hepatosplenomegaly+foam cells

A

Dx: Niemann Pick

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3
Q

In niemann pick disease, what would you see in that patient’s eye?

A

Cherry Red spot on macula

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4
Q

What two diseases have Cherry Red Spot on Macula?

A

Niemann Pick and Tay-Sachs

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5
Q

Niemann pick vs Tay Sachs?

A

Cherry Red Spot

Tay Sachs has no hepatosplenomegaly vs Niemann Pick (Hepatosplenomegaly)

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Biochemistry (21 decks)

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