lysosomal storage diseases

Question 1

enzyme and substrate? Fabry

Answer 1

alpha-galactosidase A

ceramide trihexoside

Question 2

enzyme and substrate? gaucher

Answer 2

glucocerebrosidase (beta-glucosidase)

glucocerebroside

Question 3

enzyme and substrate? niemann-pick

Answer 3

sphingomyelinase

sphingomyelin

Question 4

enzyme and substrate? tay sachs

Answer 4

hexosaminidase A

GM2 ganglioside

Question 5

enzyme and substrate? krabbe disease

Answer 5

galactocerebrosidase

galactocerebroside, psychosine

Question 6

enzyme and substrate? metachromatic leukodystrophy

Answer 6

arylsulfatase A

cerebroside sulfate

Question 7

enzyme and substrate? hurler

Answer 7

alpha-L-iduronidase

heparan sulfate, dermatan sulfate

Question 8

enzyme and substrate? hunter

Answer 8

iduronate sulfatase

heparan sulfate, dermatan sulfate

Question 9

All are AR except which two?

Answer 9

Fabry and Hunter

Question 10

peripheral neuropathy, angiokeratomas, CV/renal issues

Answer 10

fabry

Question 11

most common lysosomal storage disease

Answer 11

gaucher

Question 12

HSM, pancytopenia, osteoporosis, Erlenmeyer flask, crumpled tissue cells

Answer 12

gaucher

Question 13

tx for gaucher

Answer 13

recombinant glucocerebrosidase

Question 14

progressive neurodegeneration, HSM, foam cells, cherry red spot on macula

Answer 14

niemann pick

Question 15

progressive neurodegeneration, cherry red spot, lysosomes with onion skin, NO HSM

Answer 15

tay sachs

Question 16

peripheral neuropathy, optic atrophy, developmental delay, globoid cells

Answer 16

krabbe

Question 17

central and peripheral demyelination, ataxia, dementia

Answer 17

metachromatic leukodystrophy

Question 18

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

Answer 18

hurler

Question 19

aggressive behavior, no corneal clouding

Answer 19

hunter

Question 20

which are more common in ashkenazi jews?

Answer 20

tay sachs, niemann pick, some gaucher