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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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1. Findings in Krabbe's disease
Fabry's disease Hunter's disease
Glucocerebroside in brain - liver - spleen - and bone marrow
Normal until 3-6 months of age - then weakness begins - development slows & regresses - exaggerated startle response - death by 3
Optic atrophy - spasticity - early death

2. Findings in Tay- Sachs disease
Ceramide trihexoside in heart - brain - and kidneys
Corneal clouding & mental retardation
Iduronate sulfatase
Normal until 3-6 months of age - then weakness begins - development slows & regresses - exaggerated startle response - death by 3

3. Findings in Niemann - Pick disease type A
Dead by age 3
Sulfatide in the brain - kidney - liver - and peripheral nerves
Optic atrophy - spasticity - early death
GM2 ganglioside

4. Deficient in Hurler's syndrome
Dead by age 3
Alpha - L- iduronidase
Glucocerebroside in brain - liver - spleen - and bone marrow
Arylsulfatase A

5. Deficient in Niemann - Pick disease
Alpha - L- iduronidase
GM2 ganglioside
Galactosylceramidase (= absence of galactosylceramide & galactoside)
Sphingomyelinase

6. Findings in Gaucher's disease

7. X- linked recessive Lysosomal Storage Diseases

8. Accumulates in Krabbe's disease
Renal failure - increased risk of stroke & MI
Sulfatide in the brain - kidney - liver - and peripheral nerves
Mild mental retardation - no corneal clouding
Galactocerebroside in brain

9. Findings in Hurler's syndrome
Alpha - L- iduronidase
Arylsulfatase A
Hexosaminadase
Corneal clouding & mental retardation

10. Deficient in Gaucher's disease
Hepatosplenomegaly - anemia - thrombocytopenia - 'crinkled paper' cells
Glucocerebrosidase
Arylsulfatase A
Alpha - galactosidase A

11. Findings in Hunter's syndrome
Hepatosplenomegaly - anemia - thrombocytopenia - 'crinkled paper' cells
Sphingomyelinase
Alpha - L- iduronidase
Mild mental retardation - no corneal clouding

12. Accumulates in Niemann - Pick disease
Glucocerebrosidase
Sphingomyelin cholesterol in reticuloendothelial & parenchymal cells & tissues
Optic atrophy - spasticity - early death
Normal until 3-6 months of age - then weakness begins - development slows & regresses - exaggerated startle response - death by 3

13. Deficient in Krabbe's disease
Alpha - L- iduronidase
Sulfatide in the brain - kidney - liver - and peripheral nerves
Mild mental retardation - no corneal clouding
Galactosylceramidase (= absence of galactosylceramide & galactoside)

14. Deficient in metachromatic leukodystrophy
Galactosylceramidase (= absence of galactosylceramide & galactoside)
Sphingomyelinase
Glucocerebrosidase
Arylsulfatase A

15. Accumulates in metachromatic leukodystrophy
Corneal clouding & mental retardation
Sulfatide in the brain - kidney - liver - and peripheral nerves
Arylsulfatase A
Sphingomyelinase

16. Findings in Fabry's disease
Renal failure - increased risk of stroke & MI
Hexosaminadase
Hepatosplenomegaly - anemia - thrombocytopenia - 'crinkled paper' cells
Iduronate sulfatase

17. Accumulates in Gaucher's disease
Galactosylceramidase (= absence of galactosylceramide & galactoside)
Sphingomyelinase
Hexosaminadase
Glucocerebroside in brain - liver - spleen - and bone marrow

18. Deficient in Fabry's disease
Arylsulfatase A
Renal failure - increased risk of stroke & MI
Alpha - galactosidase A
Galactosylceramidase (= absence of galactosylceramide & galactoside)

19. Deficient in Hunter's syndrome
Corneal clouding & mental retardation
Mild mental retardation - no corneal clouding
Hepatosplenomegaly - anemia - thrombocytopenia - 'crinkled paper' cells
Iduronate sulfatase

20. Accumulates in Fabry's disease
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
Optic atrophy - spasticity - early death
Ceramide trihexoside in heart - brain - and kidneys

21. Deficient in Tay- Sachs disease
Optic atrophy - spasticity - early death
Hexosaminadase
Alpha - L- iduronidase
Sphingomyelin cholesterol in reticuloendothelial & parenchymal cells & tissues

22. Accumulates in Tay- Sachs disease
Mild mental retardation - no corneal clouding
Galactocerebroside in brain
GM2 ganglioside
Ceramide trihexoside in heart - brain - and kidneys