Lysosomal storage diseases

Question 1

deficient enzyme in Hurlers

Answer 1

alpha-L-Iduronidase

Question 2

deficient enzyme in Hunters

Answer 2

Iduronate sulfatase

Question 3

deficient enzyme in Tay sachs

Answer 3

beta-Hexosaminidase A

Question 4

accumulation in Hurlers and Hunters

Answer 4

dermatan sulfate and heparin sulfate

Question 5

hepatosplenomegaly and corneal clouding

Answer 5

Hurlers

Question 6

genetic inheritance of Hunters

Answer 6

X-linked recessive

Question 7

hepatosplenomegaly without corneal clouding

Answer 7

Hunters

Question 8

accumulation in Tay sachs

Answer 8

ganglioside GM2

Question 9

cherry red macula and onion shell inclusions

Answer 9

Tay sachs

Question 10

most common lysosomal storage disorder

Answer 10

Gauchers

Question 11

deficient enzyme in Gauchers

Answer 11

beta-glucosidase

Question 12

accumulation in gauchers

Answer 12

glucosyl ceramide (glucocerebroside)

Question 13

crumpled tissue paper appearance in cytoplasm

Answer 13

Gauchers

Question 14

genetic inheritance of Fabrys

Answer 14

X-linked recessive

Question 15

deficient enzyme in Fabrys

Answer 15

alpha-galactosidase

Question 16

accumulation in Fabrys

Answer 16

Globside (ceramide trihexoside)

Question 17

deficient enzyme in Neiman pick

Answer 17

sphingomyelinase

Question 18

accumulation in Neiman pick

Answer 18

sphingomyelin

Question 19

Neiman pick type that is fatal in 2-3 years of infancy

Answer 19

type A

Question 20

cherry red macula, foam cells and hepatospleomegaly

Answer 20

Neiman pick

Question 21

deficient enzyme in metachromatic leukodystrophy

Answer 21

Aryl sulfatase A

Question 22

accumulation in metachromatic leukodystrophy

Answer 22

sulfatide

Question 23

defective mannose 6p markers on enzymes destined for lysosomes

Answer 23

I-cell disease

Question 24

accumulation of all GAGs and sphingolipids

Answer 24

I-cell disease