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