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