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Test your basic knowledge |
Lysosomal Storage Diseases
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Study First
Subject
:
health-sciences
Instructions:
Answer 22 questions in 15 minutes.
If you are not ready to take this test, you can
study here
.
Match each statement with the correct term.
Don't refresh. All questions and answers are randomly picked and ordered every time you load a test.
This is a study tool. The 3 wrong answers for each question are randomly chosen from answers to other questions. So, you might find at times the answers obvious, but you will see it re-enforces your understanding as you take the test each time.
1. Findings in Hurler's syndrome
GM2 ganglioside
Arylsulfatase A
Corneal clouding & mental retardation
Galactosylceramidase (= absence of galactosylceramide & galactoside)
2. Findings in Tay- Sachs disease
Iduronate sulfatase
Ceramide trihexoside in heart - brain - and kidneys
Normal until 3-6 months of age - then weakness begins - development slows & regresses - exaggerated startle response - death by 3
Alpha - L- iduronidase
3. Accumulates in Niemann - Pick disease
Galactosylceramidase (= absence of galactosylceramide & galactoside)
Galactocerebroside in brain
Optic atrophy - spasticity - early death
Sphingomyelin cholesterol in reticuloendothelial & parenchymal cells & tissues
4. Deficient in Fabry's disease
Iduronate sulfatase
Dead by age 3
Alpha - galactosidase A
Mild mental retardation - no corneal clouding
5. X- linked recessive Lysosomal Storage Diseases
6. Findings in Gaucher's disease
7. Deficient in Gaucher's disease
Iduronate sulfatase
Glucocerebrosidase
Dead by age 3
GM2 ganglioside
8. Findings in Fabry's disease
Renal failure - increased risk of stroke & MI
Hepatosplenomegaly - anemia - thrombocytopenia - 'crinkled paper' cells
Galactocerebroside in brain
Alpha - galactosidase A
9. Deficient in Niemann - Pick disease
Fabry's disease Hunter's disease
Sphingomyelinase
Mild mental retardation - no corneal clouding
Galactocerebroside in brain
10. Accumulates in metachromatic leukodystrophy
Sulfatide in the brain - kidney - liver - and peripheral nerves
Alpha - galactosidase A
Alpha - L- iduronidase
Hexosaminadase
11. Findings in Niemann - Pick disease type A
Optic atrophy - spasticity - early death
Ceramide trihexoside in heart - brain - and kidneys
Dead by age 3
GM2 ganglioside
12. Accumulates in Krabbe's disease
Galactocerebroside in brain
Alpha - L- iduronidase
Optic atrophy - spasticity - early death
Dead by age 3
13. Accumulates in Gaucher's disease
Glucocerebroside in brain - liver - spleen - and bone marrow
Dead by age 3
Fabry's disease Hunter's disease
Sulfatide in the brain - kidney - liver - and peripheral nerves
14. Deficient in metachromatic leukodystrophy
Alpha - L- iduronidase
Arylsulfatase A
Fabry's disease Hunter's disease
Ceramide trihexoside in heart - brain - and kidneys
15. Deficient in Hunter's syndrome
Sulfatide in the brain - kidney - liver - and peripheral nerves
GM2 ganglioside
Iduronate sulfatase
Hexosaminadase
16. Deficient in Tay- Sachs disease
Hexosaminadase
Galactosylceramidase (= absence of galactosylceramide & galactoside)
GM2 ganglioside
Iduronate sulfatase
17. Deficient in Hurler's syndrome
Arylsulfatase A
Alpha - L- iduronidase
Renal failure - increased risk of stroke & MI
Sphingomyelin cholesterol in reticuloendothelial & parenchymal cells & tissues
18. Deficient in Krabbe's disease
Galactosylceramidase (= absence of galactosylceramide & galactoside)
Alpha - galactosidase A
Optic atrophy - spasticity - early death
Dead by age 3
19. Accumulates in Tay- Sachs disease
Hexosaminadase
GM2 ganglioside
Galactosylceramidase (= absence of galactosylceramide & galactoside)
Mild mental retardation - no corneal clouding
20. Findings in Hunter's syndrome
Sphingomyelin cholesterol in reticuloendothelial & parenchymal cells & tissues
Mild mental retardation - no corneal clouding
Hepatosplenomegaly - anemia - thrombocytopenia - 'crinkled paper' cells
Hexosaminadase
21. Accumulates in Fabry's disease
Glucocerebrosidase
Ceramide trihexoside in heart - brain - and kidneys
Alpha - galactosidase A
Optic atrophy - spasticity - early death
22. Findings in Krabbe's disease
Optic atrophy - spasticity - early death
Iduronate sulfatase
GM2 ganglioside
Galactosylceramidase (= absence of galactosylceramide & galactoside)