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