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