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