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