Lysosomal Storage Disease

Front 1

Fabry disease findings

Back 1

Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease

Front 2

Fabry disease deficient enzyme

Back 2

Alpha galactosidase A

Front 3

Fabry disease accumulated substrate

Back 3

Ceramic trihexoside

Front 4

Fabry disease inheritance

Back 4

XR

Front 5

Gaucher Disease findings

Back 5

Hepatosplenomegaly, pacytopenia, aseptic necrosis of femur, bone crises, Gaucher cells

Front 6

What are Gaucher cells

Back 6

Lipid laden macrophages resembling crumpled tissue paper

Front 7

Gaucher Disease deficient enzyme

Back 7

Glucocerebrosidase aka beta glucosidase

Front 8

Gaucher Disease treatment

Back 8

Recombinant glucocerebrosidase

Front 9

Gaucher Disease accumulated substrate

Back 9

Glucocerebroside

Front 10

Gaucher Disease inheritance

Back 10

AR

Front 11

The most common lysosomal storage disease

Back 11

Gaucher Disease

Front 12

Niemann-Pick disease findings

Back 12

Hepatosplenomegaly, progressive neurodegeneration, "cherry red spot on macula", foam cells (lipid laden macrophages)

Front 13

Niemann-Pick disease deficient enzyme

Back 13

Sphingomyelinase

Front 14

Niemann-Pick disease accumulated substrate

Back 14

Sphingomyelin

Front 15

Niemann-Pick disease inheritance

Back 15

AR

Front 16

Tay-Sachs disease findings

Back 16

Progressive neurodegeneration, developmental delay, "cherry red spot on macula", lysosomes with onions skin, no hepatosplenomegaly vs Niemann-Pick

Front 17

Tay-Sachs disease deficient enzyme

Back 17

Hexosaminidase A

Front 18

Tay-Sachs disease accumulated substrate

Back 18

GM2 ganglioside

Front 19

Tay-Sachs disease inheritance

Back 19

AR

Front 20

Krabbe disease findings

Back 20

Peripheral neuropathy, developmental delay, optic atrophy, multinucleated globoid cells

Front 21

Krabbe disease can be confused with which disease?

Back 21

Cerebral palsy due to muscle weakness,spasticity. Also get deafness,blindness,difficulty swallowing

Front 22

Krabbe disease deficient enzyme

Back 22

Galactocerebrosidase

Front 23

Krabbe disease deficient enzyme

Back 23

Galactocerebrosidase

Front 24

Krabbe disease accumulated substrate

Back 24

Galactocerebroside, psychosine

Front 25

Krabbe disease deficient enzyme

Back 25

Galactocerebrosidase

Front 26

Krabbe disease accumulated substrate

Back 26

Galactocerebroside, psychosine

Front 27

Krabbe disease inheritance

Back 27

AR

Front 28

Metachromatic leukodystrophy Findings

Back 28

central and peripheral demyelination with ataxia, dementia

Front 29

Metachromatic leukodystrophy deficient enzyme

Back 29

arylsulfatase A

Front 30

Metachromatic leukodystrophy accumulated substrate

Back 30

cerebroside sulfate

Front 31

Metachromatic leukodystrophy inheritance

Back 31

AR

Front 32

Hurler syndrome finding

Back 32

developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly

Front 33

Hurler syndrome deficient enzyme

Back 33

alpha-L-iduronidase

Front 34

Hurler syndrome accumulated substrate

Back 34

heparan sulfate, dermatan sulfate

Front 35

Hurler syndrome accumulated substrate

Back 35

heparan sulfate, dermatan sulfate

Front 36

Hurler syndrome inheritance

Back 36

AR

Front 37

Hunter syndrome finding

Back 37

mild hurler + aggressive behavior, no corneal clouding

Front 38

Hunter syndrome finding

Back 38

mild hurler + aggressive behavior, no corneal clouding

Front 39

Hunter syndrome deficient enzyme

Back 39

iduronate sulfatase

Front 40

Hunter syndrome finding

Back 40

mild hurler + aggressive behavior, no corneal clouding

Front 41

Hunter syndrome deficient enzyme

Back 41

iduronate sulfatase

Front 42

Hunter syndrome accumulated substrate

Back 42

heparan sulfate, dermatan sulfate

Front 43

Hunter syndrome finding

Back 43

mild hurler + aggressive behavior, no corneal clouding

Front 44

Hunter syndrome deficient enzyme

Back 44

iduronate sulfatase

Front 45

Hunter syndrome accumulated substrate

Back 45

heparan sulfate, dermatan sulfate

Front 46

Hunter syndrome inheritance

Back 46

XR