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Flashcards in lysosomal storage disorders Deck (25):
1

x-linked recessive lysosomal storage disorder

fabry and hunter

2

inheritance pattern of all lysosomal storage disorders except fabry and hunter

autosomal recessive

3

most common sphingolipidosis

gaucher

4

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

fabry

5

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

gaucher

6

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

neimann pick

7

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

tay sachs

8

peripheral neuropathy, developmental delay, optic atrophhy, globoid cells

krabbe

9

central and peripheral demyelination with ataxia, dementia

metachromatic leukodystrophy

10

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

hurler

11

fabry deficient enzyme

alpha galactosidase A

12

gaucher deficienct enzyme

glucocerebrosidase AKA beta-glucosidase

13

neimann pick disease deficienct enzyme

sphingomyelinase

14

tay sachs deficient enzyme

hexosaminidase A

15

krabbe deficient enzyme

galactocerebrosidase

16

metachromatic leukodystrophy deficient enzyme

arylsulfatase A

17

hurler syndrome deficient enzyme

alpha - L - iduronidase

18

hunter syndrome deficient syndrome

iduronate sulfatase

19

fabry disease accumulated substance

ceramide trixehosidase

20

gaucher accumuluated substance

glucocerebroside

21

neimann pick disease accumulated substance

sphingomyelin

22

tay sachs accumulated substance

GM2 ganglioside

23

krabbe disase accumulated substance

galactocerebroside, psychosine

24

metachromatic leukodystrophy accumulated substance

cerebroside sulfate

25

hurler/hunter accumulated substance

heperan sulfate/dermatan sulfate