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