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