Lysosomal storage disease Flashcards

1
Q

Fabry disease findings

A

Peripheral neuropathy of hands and feet
Angiokeratomas
Cardiovascular and renal disease

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2
Q

Fabry disease deficient enzyme and accumulated substrate

A

Enzyme: Alpha galactosidase A
Substrate: Ceramide trihexoside

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3
Q

Gaucher disease findings

A
Most common
Hepatosplenomegaly, pancytopenia
Osteoporosis
Aseptic necrosis of the femur
Bone crises
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4
Q

Gaucher disease deficient enzyme and accumulated substrate

A

Glucocerebrosidase

Glucocerebroside

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5
Q

Niemann Pick disease findings

A

Progressive neurodegeneration
Hepatosplenomegaly
Foam cells
Cherry red spot on macula

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6
Q

Niemann Pick disease deficient enzyme and accumulated substrate

A

Sphingomyelinase

Sphingomyelin

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7
Q

Tay Sachs disease findings

A
Progressive neurodegeneration
Developmental delay
Cherry red spot on macula
Lysosomes with onion skin
NO hepatomegaly
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8
Q

Tay-Sachs disease deficient enzyme and accumulated substrate

A

Hexosaminidase A

GM2 ganglioside

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9
Q

Krabbe disease findings

A

Peripheral neuropathy
developmental delay
Optic atrophy
Globoid cells

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10
Q

Krabbe disease deficient enzyme and accumulated substrate

A

Galactocerebrosidase
Galactocerebroside
Pschosine

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11
Q

Metachromatic leukodystrophy findings

A

Central and peripheral demyelination with ataxia

Dementia

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12
Q

Hurler syndrome findings

A
Developmental delay
Gargoylism
Airway obstruction
Corneal clouding
Hepatosplenomegaly
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13
Q

Hunter syndrome findings

A

Mild Hurler’s with aggressive behavior

No corneal clouding

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