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