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