lysosomal storage diseases

Question 1

Fabry’s disease findings

Answer 1

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

Question 2

Fabry’s disease deficient enzyme

Answer 2

alpha-galactosidase A

Question 3

Fabry’s disease accumulated substrate

Answer 3

ceramide trihexoside

Question 4

Fabry’s disease inheritance

Answer 4

x-linked recessive

Question 5

Gaucher’s disease findings

Answer 5

hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher’s cells (macrophages that look like crumpled tissue paper)

Question 6

Gaucher’s disease deficient enzyme

Answer 6

glucocerebrosidase

Question 7

Gaucher’s disease accumulated substrate

Answer 7

glucocerebroside

Question 8

Niemann-Pick disease

Answer 8

progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells

Question 9

Nemann-Pick deficienct enzyme

Answer 9

sphingomyelinase

Question 10

Niemann-Pick accumulated substrate

Answer 10

sphingomyelin

Question 11

Tay-Sachs disease findings

Answer 11

macrocephaly, progressive neurogegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin, no hepatosplenomegaly
due to frameshift mutation

Question 12

Tay-Sachs deficient enzyme

Answer 12

hexosaminidase A

Question 13

Tay-Sachs accumulated substrate

Answer 13

GM2 ganglioside

Question 14

Krabbe’s disease findings

Answer 14

peripheral neuropathy, developmental delay, optic atrophy, globoid cells

Question 15

Krabbe’s disease deficient enzyme

Answer 15

galactocerebrosidase

Question 16

Krabbe’s disease accumulated substrate

Answer 16

galactocerebroside

Question 17

metachromatic leukodystrophy findings

Answer 17

central and peripheral demyelination with ataxia, dementia

Question 18

metachromatic leukodystrophy deficienct enzyme

Answer 18

arylsulfatase A

Question 19

metachromatic leukodystrophy accumulated substrate

Answer 19

cerebroside sulfate

Question 20

Hurler’s syndrome findings

Answer 20

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

Question 21

Hurler’s syndrome mutated enzyme

Answer 21

alpha-L-iduronidase

Question 22

Hurler’s syndrome accumulated substrate

Answer 22

heparan sulfate, dermatan sulfate

Question 23

Hunter’s syndrome findings

Answer 23

mild Hurler’s + aggressive behavior, no corneal clouding

Question 24

Hunter’ syndrome deficient enzyme

Answer 24

iduronate sulfatase

Question 25

Hunter’s syndrome accumulated substrate

Answer 25

heparan sulfate, dermatan sulfate

Question 26

Hunter’s syndrome inheritance

Answer 26

x-linked recessive

Question 27

Farber disease findings

Answer 27

ceramide accumulation within neurons and granulomas in skin

Question 28

Farber disease deficient enzyme

Answer 28

ceramidase

Question 29

increased incidence in Ashkenazi jews

Answer 29

Tay-Sacks, Niemann-Picks, some forms of Gaucher’s