Lysosomal storage dz

Question 1

Peripheral neuropathy of hands and feet, angiokeratomas, CARDIOVASCULAR AND RENAL DISEASE

Answer 1

Fabrys

Question 2

Deficient enzyme of Fabrys

Answer 2

alpha-galactosidase A

Question 3

Accumulated substrate of Fabrys

Answer 3

Ceramide trihexoside

Question 4

X linked Lysosomal Storage diseases

Answer 4

Fabry’s
Hunter’s syndrome
(the rest are autosomal recessive)

Question 5

Most common

Answer 5

Gaucher’s disease

Question 6

Hepatosplenomegaly, aseptic necrosis of femur, bone crises, macrophages that look like cumpled tissue paper

Answer 6

Gaucher

Question 7

Deficient enzyme of Gaucher

Answer 7

Glucocerbrosidase

Question 8

Accumulated substrate of Gaucher

Answer 8

Glucocerbroside

Question 9

Progressive neurodegeneration, hepatosplenomegaly, cherry red spot on macula, foam cells

Answer 9

Niemann-Pick disease

Question 10

Deficient enzyme of Niemann-Pick

Answer 10

Sphingomyelinase

Question 11

Accumulated substrate of Niemann Pick

Answer 11

Sphingomyelin

Question 12

Progressive neurodegeneration, developmental delay, cherry red spot on macula, lysosomes with onion skin

Answer 12

Tay-Sachs

Question 13

Deficient enzyme of Tay-Sachs

Answer 13

Hexosaminidase A

Question 14

Accumulated substrate of Tay-Sachs

Answer 14

GM2 ganglioside

Question 15

Peipheral neuropathy, developmental delay, optic atrophy, globoid cells

Answer 15

Krabbe’s

Question 16

Deficient enzyme of Krabbe’s

Answer 16

Galactocerebrosidase

Question 17

Accumulated substrate of Krabbe’s

Answer 17

Galactocerebrosidase

Question 18

Central and peripheral demyelination with ataxia, dementia

Answer 18

Metachromatic leukodystrophy

Question 19

Deficient enzyme of Metachromatic leukodystrophy

Answer 19

Arylsulfatase A

Question 20

Accumulated substrate of metachromatic leukodystrophy

Answer 20

Cerebroside sulfate

Question 21

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

Answer 21

Hurler’s syndrome

Question 22

Deficient enzyme of Hurler’s

Answer 22

alpha-L-iduronidase

Question 23

Accumulated substrate of Hurler’s

Answer 23

heparan sulfate, dermatan sulfate

Question 24

Developmental delay, gargoylism, airway obstruction, aggressive behavior, hepatosplenomegaly

Answer 24

Hunter’s

Question 25

Deficient enzyme of Hunter’s

Answer 25

Iduronate sulfatase

Question 26

Accumlated substrate of Hunter’s

Answer 26

Heparan sulfate, dermatan sulfate