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Test your basic knowledge |
Lysosomal Storage Diseases
Start Test
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 Niemann - Pick disease type A
Galactocerebroside in brain
Alpha - galactosidase A
Ceramide trihexoside in heart - brain - and kidneys
Dead by age 3
2. Findings in Tay- Sachs disease
Normal until 3-6 months of age - then weakness begins - development slows & regresses - exaggerated startle response - death by 3
Alpha - L- iduronidase
Sphingomyelin cholesterol in reticuloendothelial & parenchymal cells & tissues
Glucocerebrosidase
3. Findings in Fabry's disease
Renal failure - increased risk of stroke & MI
Optic atrophy - spasticity - early death
Corneal clouding & mental retardation
Alpha - L- iduronidase
4. Accumulates in metachromatic leukodystrophy
Dead by age 3
Sphingomyelinase
Sulfatide in the brain - kidney - liver - and peripheral nerves
Glucocerebroside in brain - liver - spleen - and bone marrow
5. Accumulates in Fabry's disease
Ceramide trihexoside in heart - brain - and kidneys
Mild mental retardation - no corneal clouding
Galactosylceramidase (= absence of galactosylceramide & galactoside)
Normal until 3-6 months of age - then weakness begins - development slows & regresses - exaggerated startle response - death by 3
6. Deficient in Tay- Sachs disease
Fabry's disease Hunter's disease
Iduronate sulfatase
Hexosaminadase
Mild mental retardation - no corneal clouding
7. Deficient in Krabbe's disease
Arylsulfatase A
Corneal clouding & mental retardation
Hexosaminadase
Galactosylceramidase (= absence of galactosylceramide & galactoside)
8. Deficient in Hurler's syndrome
Sphingomyelin cholesterol in reticuloendothelial & parenchymal cells & tissues
Iduronate sulfatase
Alpha - L- iduronidase
Galactosylceramidase (= absence of galactosylceramide & galactoside)
9. Deficient in Gaucher's disease
Mild mental retardation - no corneal clouding
Alpha - galactosidase A
Normal until 3-6 months of age - then weakness begins - development slows & regresses - exaggerated startle response - death by 3
Glucocerebrosidase
10. Accumulates in Niemann - Pick disease
Sulfatide in the brain - kidney - liver - and peripheral nerves
Iduronate sulfatase
Sphingomyelin cholesterol in reticuloendothelial & parenchymal cells & tissues
Ceramide trihexoside in heart - brain - and kidneys
11. Deficient in Fabry's disease
Alpha - galactosidase A
Renal failure - increased risk of stroke & MI
Sulfatide in the brain - kidney - liver - and peripheral nerves
Corneal clouding & mental retardation
12. Accumulates in Krabbe's disease
Iduronate sulfatase
Galactocerebroside in brain
Ceramide trihexoside in heart - brain - and kidneys
Alpha - galactosidase A
13. Findings in Hurler's syndrome
Iduronate sulfatase
Corneal clouding & mental retardation
Galactocerebroside in brain
Galactosylceramidase (= absence of galactosylceramide & galactoside)
14. Findings in Gaucher's disease
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15. Findings in Hunter's syndrome
Corneal clouding & mental retardation
Ceramide trihexoside in heart - brain - and kidneys
Mild mental retardation - no corneal clouding
Normal until 3-6 months of age - then weakness begins - development slows & regresses - exaggerated startle response - death by 3
16. X- linked recessive Lysosomal Storage Diseases
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17. Accumulates in Gaucher's disease
Sphingomyelinase
Glucocerebroside in brain - liver - spleen - and bone marrow
Renal failure - increased risk of stroke & MI
Hexosaminadase
18. Accumulates in Tay- Sachs disease
Glucocerebroside in brain - liver - spleen - and bone marrow
Galactocerebroside in brain
GM2 ganglioside
Sphingomyelin cholesterol in reticuloendothelial & parenchymal cells & tissues
19. Findings in Krabbe's disease
Ceramide trihexoside in heart - brain - and kidneys
Dead by age 3
GM2 ganglioside
Optic atrophy - spasticity - early death
20. Deficient in metachromatic leukodystrophy
Arylsulfatase A
Alpha - galactosidase A
Fabry's disease Hunter's disease
Ceramide trihexoside in heart - brain - and kidneys
21. Deficient in Niemann - Pick disease
Corneal clouding & mental retardation
Arylsulfatase A
Sphingomyelin cholesterol in reticuloendothelial & parenchymal cells & tissues
Sphingomyelinase
22. Deficient in Hunter's syndrome
Glucocerebrosidase
Iduronate sulfatase
Glucocerebroside in brain - liver - spleen - and bone marrow
Galactosylceramidase (= absence of galactosylceramide & galactoside)