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