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Lysosomal Storage Diseases

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Answer 22 questions in 15 minutes.
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Match each statement with the correct term.
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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. Deficient in Hurler's syndrome
Alpha - L- iduronidase
Alpha - galactosidase A
Dead by age 3
Normal until 3-6 months of age - then weakness begins - development slows & regresses - exaggerated startle response - death by 3

2. Findings in Krabbe's disease
Alpha - galactosidase A
Normal until 3-6 months of age - then weakness begins - development slows & regresses - exaggerated startle response - death by 3
Glucocerebrosidase
Optic atrophy - spasticity - early death

3. Accumulates in Niemann - Pick disease
Sphingomyelin cholesterol in reticuloendothelial & parenchymal cells & tissues
Dead by age 3
Renal failure - increased risk of stroke & MI
Sulfatide in the brain - kidney - liver - and peripheral nerves

4. Findings in Gaucher's disease

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5. Deficient in Gaucher's disease
Dead by age 3
Corneal clouding & mental retardation
Glucocerebrosidase
Ceramide trihexoside in heart - brain - and kidneys

6. Accumulates in Tay- Sachs disease
Iduronate sulfatase
Glucocerebrosidase
Hexosaminadase
GM2 ganglioside

7. Findings in Fabry's disease
Renal failure - increased risk of stroke & MI
Galactocerebroside in brain
GM2 ganglioside
Glucocerebroside in brain - liver - spleen - and bone marrow

8. Findings in Hurler's syndrome
Fabry's disease Hunter's disease
Renal failure - increased risk of stroke & MI
Mild mental retardation - no corneal clouding
Corneal clouding & mental retardation

9. Accumulates in Krabbe's disease
Glucocerebrosidase
Galactocerebroside in brain
Galactosylceramidase (= absence of galactosylceramide & galactoside)
Sphingomyelin cholesterol in reticuloendothelial & parenchymal cells & tissues

10. Deficient in Tay- Sachs disease
Corneal clouding & mental retardation
Hexosaminadase
Alpha - L- iduronidase
Normal until 3-6 months of age - then weakness begins - development slows & regresses - exaggerated startle response - death by 3

11. Deficient in Fabry's disease
Fabry's disease Hunter's disease
Mild mental retardation - no corneal clouding
Alpha - galactosidase A
Normal until 3-6 months of age - then weakness begins - development slows & regresses - exaggerated startle response - death by 3

12. X- linked recessive Lysosomal Storage Diseases

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13. Deficient in Hunter's syndrome
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
Iduronate sulfatase
Alpha - L- iduronidase

14. Deficient in Krabbe's disease
Alpha - L- iduronidase
Galactosylceramidase (= absence of galactosylceramide & galactoside)
Dead by age 3
Normal until 3-6 months of age - then weakness begins - development slows & regresses - exaggerated startle response - death by 3

15. Accumulates in Fabry's disease
Hexosaminadase
Ceramide trihexoside in heart - brain - and kidneys
Corneal clouding & mental retardation
Mild mental retardation - no corneal clouding

16. Deficient in Niemann - Pick disease
Ceramide trihexoside in heart - brain - and kidneys
Corneal clouding & mental retardation
Renal failure - increased risk of stroke & MI
Sphingomyelinase

17. Findings in Tay- Sachs disease
Renal failure - increased risk of stroke & MI
Galactocerebroside in brain
Normal until 3-6 months of age - then weakness begins - development slows & regresses - exaggerated startle response - death by 3
Galactosylceramidase (= absence of galactosylceramide & galactoside)

18. Deficient in metachromatic leukodystrophy
GM2 ganglioside
Sphingomyelinase
Arylsulfatase A
Sulfatide in the brain - kidney - liver - and peripheral nerves

19. Findings in Niemann - Pick disease type A
Mild mental retardation - no corneal clouding
Sulfatide in the brain - kidney - liver - and peripheral nerves
Dead by age 3
Corneal clouding & mental retardation

20. Accumulates in Gaucher's disease
Mild mental retardation - no corneal clouding
Dead by age 3
Arylsulfatase A
Glucocerebroside in brain - liver - spleen - and bone marrow

21. Accumulates in metachromatic leukodystrophy
Dead by age 3
Alpha - galactosidase A
Sphingomyelin cholesterol in reticuloendothelial & parenchymal cells & tissues
Sulfatide in the brain - kidney - liver - and peripheral nerves

22. Findings in Hunter's syndrome
Optic atrophy - spasticity - early death
Dead by age 3
Mild mental retardation - no corneal clouding
Iduronate sulfatase

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Lysosomal Storage Diseases

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