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