lysosomal storage disorders

Question 1

x-linked recessive lysosomal storage disorder

Answer 1

fabry and hunter

Question 2

inheritance pattern of all lysosomal storage disorders except fabry and hunter

Answer 2

autosomal recessive

Question 3

most common sphingolipidosis

Answer 3

gaucher

Question 4

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

Answer 4

fabry

Question 5

hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises

Answer 5

gaucher

Question 6

progressive neurogeneration, hepatosplenomegaly, foam cell, cherry red spot of macula

Answer 6

neimann pick

Question 7

progressive neurodegeneration, developmental delay, cherry red spot, lysosomes with onion skin, no hepatosplenomegaly

Answer 7

tay sachs

Question 8

peripheral neuropathy, developmental delay, optic atrophhy, globoid cells

Answer 8

krabbe

Question 9

central and peripheral demyelination with ataxia, dementia

Answer 9

metachromatic leukodystrophy

Question 10

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

Answer 10

hurler

Question 11

fabry deficient enzyme

Answer 11

alpha galactosidase A

Question 12

gaucher deficienct enzyme

Answer 12

glucocerebrosidase AKA beta-glucosidase

Question 13

neimann pick disease deficienct enzyme

Answer 13

sphingomyelinase

Question 14

tay sachs deficient enzyme

Answer 14

hexosaminidase A

Question 15

krabbe deficient enzyme

Answer 15

galactocerebrosidase

Question 16

metachromatic leukodystrophy deficient enzyme

Answer 16

arylsulfatase A

Question 17

hurler syndrome deficient enzyme

Answer 17

alpha - L - iduronidase

Question 18

hunter syndrome deficient syndrome

Answer 18

iduronate sulfatase

Question 19

fabry disease accumulated substance

Answer 19

ceramide trixehosidase

Question 20

gaucher accumuluated substance

Answer 20

glucocerebroside

Question 21

neimann pick disease accumulated substance

Answer 21

sphingomyelin

Question 22

tay sachs accumulated substance

Answer 22

GM2 ganglioside

Question 23

krabbe disase accumulated substance

Answer 23

galactocerebroside, psychosine

Question 24

metachromatic leukodystrophy accumulated substance

Answer 24

cerebroside sulfate

Question 25

hurler/hunter accumulated substance

Answer 25

heperan sulfate/dermatan sulfate