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