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