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