Lysosomal storage diseases

Question 1

which enzyme is deficient in fabry disease?

Answer 1

a-galactosidase

Question 2

which enzyme is deficient in gaucher disease?

Answer 2

glucocerebroside (beta glucosidase)

Question 3

which enzyme is deficient in niemann pick disease?

Answer 3

sphingomyelinase

Question 4

which enzyme is deficient in tay sachs disease?

Answer 4

hexosaminidase A

Question 5

which enzyme is deficient in krabbe disease?

Answer 5

galactocerebrosidase

Question 6

which enzyme is deficient in metachromatic leukodystrophy?

Answer 6

arylsulfatase A

Question 7

which enzyme is deficient in hurler syndrome?

Answer 7

a-L-iduronidase

Question 8

which enzyme is deficient in hunter syndrome?

Answer 8

iduronate sulfatase

Question 9

what product accumulates in fabry disease?

Answer 9

ceramide trihexoside

Question 10

what product accumulates in gaucher disease?

Answer 10

glucocerebroside

Question 11

what product accumulates in niemann pick disease?

Answer 11

sphingomyelin

Question 12

what product accumulates in tay sachs disease?

Answer 12

GM2 ganglioside

Question 13

what product accumulates in krabbe disease?

Answer 13

galactocerebroside, psychosine

Question 14

what product accumulates in metachromatic leukodystrophy?

Answer 14

cerebroside sulfate

Question 15

what product accumulates in hurler syndrome?

Answer 15

heparan sulfate, dermatan sulfate

Question 16

what product accumulates in hunter syndrome?

Answer 16

heparan sulfate, dermatan sulfate

Question 17

what is the inheritance of the lysosomal storage diseases? what are the two exceptions?

Answer 17

AR

• fabry (XR)
• huntr (XR)

Question 18

• progressive neurodegeneration
• developmental delay
• cherry red spot
• lysosomes with “onion skin”
• NO hepatomegaly
• disease / enzyme / accumulated product?

Answer 18

• tay sachs
• hexosaminidase A
• GM2 ganglioside

Question 19

• central and peripheral demyelination
• ataxia
• dementia
• disease / enzyme / accumulated product?

Answer 19

• metachromatic leukodystrophy
• arylsulfatase A
• cerebroside sulfate

Question 20

• aggressive behavior
• NO corneal clouding
• disease / enzyme / accumulated product?

Answer 20

• hunter
• iduronate sulfatase
• heparan sulfate, dermatan sulfate

Question 21

• peripheral neuropathy of hands / feet
• angiokeratomas
• CV / renal disease
• disease / enzyme / accumulated product?

Answer 21

• fabry
• a-galactosidase
• ceramide trihexoside

Question 22

• progressive neurodegeneration
• hepatosplenomegaly
• foam cells (lipid laden macrophages)
• cherry red spot
• disease / enzyme / accumulated product?

Answer 22

• niemann pick
• sphingomyelinase
• sphingomyelin

Question 23

• hepatosplenomegaly
• pancytopenia
• osteoporosis
• aseptic necrosis of femur
• bone crises
• lipid laden macrophages resembling tissue paper
• disease / enzyme / accumulated product?

Answer 23

• gaucher
• glucocerebroside (beta galactosidase)
• glucocerebroside

Question 24

• development delay
• gargoylism
• airway obstruction
• corneal clouding
• hepatosplenomegaly
• disease / enzyme / accumulated product?

Answer 24

• hurler
• a-L-iduronidase
• heparan sulfate, dermatan sulfate

Question 25

how do you differentiate tay sachs vs niemann pick?

Answer 25

tay sachs has NO hepatosplenomegaly

Question 26

• peripheral neuropathy
• developmental delay
• optic atrophy
• globoid cells
• disease / enzyme / accumulated product?

Answer 26

• krabbe
• galactocerebrosidase
• galactocerebroside, psychosine