Block 1

Question 1

Generalized ganliosidosis

Answer 1

B-galactosidase, GM1 accumulates

Question 2

Tay-Sachs disease

Answer 2

Hexosaminidase A, GM2 accumulates

Question 3

Sandhoff’s disease

Answer 3

Hexosaminidase A and B, Globoside accumulates

Question 4

Fabry’s disease

Answer 4

a-galactosidase A, Ceramide-Glu-Gal-Gal

Question 5

Gaucher’s disease

Answer 5

glucocerebrosidase, Ceramide-Glu accumulates

Question 6

Niemann-Pick disease

Answer 6

Spingomyelinase, sphingomyelin accumulates

Question 7

MPS I

Answer 7

(Hurler) alpha-iduronidase, Heparan sulfate / dermatan sulfate accumulate

Question 8

MPS II

Answer 8

(Hunter) iduronate sulfatase, Heparan sulfate / dermatan sulfate accumulate

Question 9

Corneal clouding, coarse face, boney spine changes (dystosis multiplex), leaky heart valves

Answer 9

MPS1

Question 10

No corneal clouding, coarse face, hearing problems, frontal bossing

Answer 10

MPSII

Question 11

Pompe

Answer 11

alpha-1,4-glucosidase, lysosomal glycogen accumulates

Question 12

Hypotonia, cardiomyopathy, macroglossia, can’t hold head up

Answer 12

Pompe

Question 13

ischemic disease, burning pains in hand and feet, angiokeratomas

Answer 13

Fabry’s

Question 14

Anemia, low platelets (thrombocytopenia), huge hepatosplenomegaly,
bone diseases

Answer 14

Gaucher’s

Question 15

Child loose milestones of development (initially learns, but later regression starting at 6-8months), hypersensitive to sound ie hyperacusis; eventually blindness; seizures.

Answer 15

Tay-Sachs

Question 16

maltose

Answer 16

glucose + glucose

Question 17

sucrose

Answer 17

glucose + fructose

Question 18

lactose

Answer 18

glucose + galactose