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