Lysosomal Enzyme Deficiency Syndromes

Question 1

blindness, muscular weakness, cherry red macula, MR

Answer 1

hexosaminidase A, Tay Sachs

Question 2

Organomegaly, fatal in early life, cherry red macula, MR

Answer 2

sphingomyelinase, Niemann-Pick Disease

Question 3

kidney failure, cataracts, skin rash

Answer 3

galactosidase, Fabry’s

Question 4

childhood MS-like symptoms

Answer 4

arylsulfatase A, metachromatic leukodystrophy

Question 5

psychological disturbances, demyelination, MR

Answer 5

arylsulfatase A, metachromatic leukodystrophy

Question 6

myelin almost absent, mental retardation

Answer 6

beta-galactosidase, Krabbe’s disease

Question 7

organomegaly, lone bone erosion, MR in infants

Answer 7

beta-glucosidase, Gaucher’s dz

Question 8

Hoarseness, dermatitis, skeletal deformation, MR, fatal in early life

Answer 8

Ceramidase, Faber’s disease

Question 9

“crinkled paper” cells

Answer 9

beta-glucosidase, Gaucher’s diz

Question 10

hexosaminidase A

Answer 10

hexosaminidase A, Tay Sachs

Question 11

sphingomyelinase

Answer 11

Niemann-Pick Disease

Question 12

sphingomyelinase

Answer 12

sphingomyelinase, Niemann-Pick Disease

Question 13

alpha galactosidase

Answer 13

galactosidase, Fabry’s

Question 14

arylsulfatase A

Answer 14

arylsulfatase A, metachromatic leukodystrophy

Question 15

beta-galactosidase

Answer 15

beta galactosidase, Krabbe’s disease

Question 16

globotriaosylcermide; galactosylcermide

Answer 16

alpha-galactosidase (Fabry’s); beta galactosides (Krabbe’s)

Question 17

GM2 gangliosides

Answer 17

Tay Sachs

Question 18

Galactosylceramides

Answer 18

Krabbe’s

Question 19

Glucosylceramides

Answer 19

Gaucher’s

Question 20

Sulfogalactosylceramide

Answer 20

metachromatic leukodystrophy

Question 21

ceremide

Answer 21

Faber’s

Question 22

globotriaosylceramide

Answer 22

Fabry’s

Question 23

sphingomyelin

Answer 23

Niemann-Pick’s