Lysosomal storage disease Flashcards Preview

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Flashcards in Lysosomal storage disease Deck (13):
1

Fabry disease findings

Peripheral neuropathy of hands and feet
Angiokeratomas
Cardiovascular and renal disease

2

Fabry disease deficient enzyme and accumulated substrate

Enzyme: Alpha galactosidase A
Substrate: Ceramide trihexoside

3

Gaucher disease findings

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

4

Gaucher disease deficient enzyme and accumulated substrate

Glucocerebrosidase
Glucocerebroside

5

Niemann Pick disease findings

Progressive neurodegeneration
Hepatosplenomegaly
Foam cells
Cherry red spot on macula

6

Niemann Pick disease deficient enzyme and accumulated substrate

Sphingomyelinase
Sphingomyelin

7

Tay Sachs disease findings

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

8

Tay-Sachs disease deficient enzyme and accumulated substrate

Hexosaminidase A
GM2 ganglioside

9

Krabbe disease findings

Peripheral neuropathy
developmental delay
Optic atrophy
Globoid cells

10

Krabbe disease deficient enzyme and accumulated substrate

Galactocerebrosidase
Galactocerebroside
Pschosine

11

Metachromatic leukodystrophy findings

Central and peripheral demyelination with ataxia
Dementia

12

Hurler syndrome findings

Developmental delay
Gargoylism
Airway obstruction
Corneal clouding
Hepatosplenomegaly

13

Hunter syndrome findings

Mild Hurler's with aggressive behavior
No corneal clouding