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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. X- linked recessive Lysosomal Storage Diseases

2. Findings in Fabry's disease
Alpha - L- iduronidase
Renal failure - increased risk of stroke & MI
Fabry's disease Hunter's disease
Glucocerebrosidase

3. Findings in Niemann - Pick disease type A
Dead by age 3
Galactocerebroside in brain
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

4. Accumulates in metachromatic leukodystrophy
Dead by age 3
Iduronate sulfatase
Sulfatide in the brain - kidney - liver - and peripheral nerves
Normal until 3-6 months of age - then weakness begins - development slows & regresses - exaggerated startle response - death by 3

5. Deficient in Hunter's syndrome
Sphingomyelinase
Glucocerebroside in brain - liver - spleen - and bone marrow
Iduronate sulfatase
Renal failure - increased risk of stroke & MI

6. Deficient in Tay- Sachs disease
Sulfatide in the brain - kidney - liver - and peripheral nerves
Galactosylceramidase (= absence of galactosylceramide & galactoside)
Hexosaminadase
GM2 ganglioside

7. Deficient in Krabbe's disease
Glucocerebroside in brain - liver - spleen - and bone marrow
Galactosylceramidase (= absence of galactosylceramide & galactoside)
Alpha - galactosidase A
Galactocerebroside in brain

8. Deficient in Fabry's disease
Sulfatide in the brain - kidney - liver - and peripheral nerves
Mild mental retardation - no corneal clouding
Hepatosplenomegaly - anemia - thrombocytopenia - 'crinkled paper' cells
Alpha - galactosidase A

9. Accumulates in Gaucher's disease
Mild mental retardation - no corneal clouding
Sphingomyelinase
Glucocerebroside in brain - liver - spleen - and bone marrow
Hepatosplenomegaly - anemia - thrombocytopenia - 'crinkled paper' cells

10. Findings in Hurler's syndrome
Alpha - L- iduronidase
Galactocerebroside in brain
Corneal clouding & mental retardation
Glucocerebrosidase

11. Deficient in metachromatic leukodystrophy
Ceramide trihexoside in heart - brain - and kidneys
Corneal clouding & mental retardation
Arylsulfatase A
Alpha - galactosidase A

12. Findings in Krabbe's disease
Arylsulfatase A
Hepatosplenomegaly - anemia - thrombocytopenia - 'crinkled paper' cells
Corneal clouding & mental retardation
Optic atrophy - spasticity - early death

13. Deficient in Gaucher's disease
Alpha - galactosidase A
Glucocerebrosidase
Sphingomyelinase
Arylsulfatase A

14. Deficient in Hurler's syndrome
Alpha - L- iduronidase
Alpha - galactosidase A
Galactosylceramidase (= absence of galactosylceramide & galactoside)
Hepatosplenomegaly - anemia - thrombocytopenia - 'crinkled paper' cells

15. Findings in Hunter's syndrome
Mild mental retardation - no corneal clouding
Sphingomyelinase
Glucocerebroside in brain - liver - spleen - and bone marrow
Sphingomyelin cholesterol in reticuloendothelial & parenchymal cells & tissues

16. Accumulates in Tay- Sachs disease
GM2 ganglioside
Optic atrophy - spasticity - early death
Alpha - L- iduronidase
Renal failure - increased risk of stroke & MI

17. Accumulates in Fabry's disease
Ceramide trihexoside in heart - brain - and kidneys
Galactocerebroside in brain
Optic atrophy - spasticity - early death
Alpha - galactosidase A

18. Accumulates in Niemann - Pick disease
Normal until 3-6 months of age - then weakness begins - development slows & regresses - exaggerated startle response - death by 3
Sphingomyelin cholesterol in reticuloendothelial & parenchymal cells & tissues
Mild mental retardation - no corneal clouding
Renal failure - increased risk of stroke & MI

19. Accumulates in Krabbe's disease
Sulfatide in the brain - kidney - liver - and peripheral nerves
Fabry's disease Hunter's disease
Glucocerebroside in brain - liver - spleen - and bone marrow
Galactocerebroside in brain

20. Findings in Tay- Sachs disease
Iduronate sulfatase
Galactosylceramidase (= absence of galactosylceramide & galactoside)
Arylsulfatase A
Normal until 3-6 months of age - then weakness begins - development slows & regresses - exaggerated startle response - death by 3

21. Deficient in Niemann - Pick disease
Sphingomyelinase
Galactocerebroside in brain
Sulfatide in the brain - kidney - liver - and peripheral nerves
Alpha - galactosidase A

22. Findings in Gaucher's disease