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