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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. Deficient in Hunter's syndrome
Mild mental retardation - no corneal clouding
Iduronate sulfatase
Corneal clouding & mental retardation
Glucocerebroside in brain - liver - spleen - and bone marrow

3. Findings in Fabry's disease
Alpha - galactosidase A
Renal failure - increased risk of stroke & MI
Optic atrophy - spasticity - early death
Galactocerebroside in brain

4. Deficient in Niemann - Pick disease
Sphingomyelinase
Galactosylceramidase (= absence of galactosylceramide & galactoside)
Renal failure - increased risk of stroke & MI
Hepatosplenomegaly - anemia - thrombocytopenia - 'crinkled paper' cells

5. Accumulates in Krabbe's disease
Galactocerebroside in brain
Mild mental retardation - no corneal clouding
Hexosaminadase
Alpha - L- iduronidase

6. Accumulates in Niemann - Pick disease
Optic atrophy - spasticity - early death
Sphingomyelin cholesterol in reticuloendothelial & parenchymal cells & tissues
Iduronate sulfatase
Mild mental retardation - no corneal clouding

7. Accumulates in Tay- Sachs disease
GM2 ganglioside
Normal until 3-6 months of age - then weakness begins - development slows & regresses - exaggerated startle response - death by 3
Alpha - galactosidase A
Hexosaminadase

8. Deficient in Krabbe's disease
Sphingomyelin cholesterol in reticuloendothelial & parenchymal cells & tissues
Galactosylceramidase (= absence of galactosylceramide & galactoside)
Mild mental retardation - no corneal clouding
Galactocerebroside in brain

9. Deficient in Hurler's syndrome
Hexosaminadase
GM2 ganglioside
Corneal clouding & mental retardation
Alpha - L- iduronidase

10. Findings in Niemann - Pick disease type A
Dead by age 3
Alpha - galactosidase A
Optic atrophy - spasticity - early death
Corneal clouding & mental retardation

11. Accumulates in Fabry's disease
Dead by age 3
Ceramide trihexoside in heart - brain - and kidneys
Hexosaminadase
Mild mental retardation - no corneal clouding

12. Accumulates in Gaucher's disease
Glucocerebrosidase
Sphingomyelinase
Galactocerebroside in brain
Glucocerebroside in brain - liver - spleen - and bone marrow

13. Deficient in Tay- Sachs disease
Sphingomyelin cholesterol in reticuloendothelial & parenchymal cells & tissues
Glucocerebrosidase
Hexosaminadase
Mild mental retardation - no corneal clouding

14. Findings in Gaucher's disease

15. Findings in Hunter's syndrome
Hexosaminadase
Mild mental retardation - no corneal clouding
Glucocerebroside in brain - liver - spleen - and bone marrow
Galactocerebroside in brain

16. Deficient in Gaucher's disease
Normal until 3-6 months of age - then weakness begins - development slows & regresses - exaggerated startle response - death by 3
Sulfatide in the brain - kidney - liver - and peripheral nerves
Glucocerebrosidase
Galactocerebroside in brain

17. Findings in Hurler's syndrome
Hepatosplenomegaly - anemia - thrombocytopenia - 'crinkled paper' cells
Normal until 3-6 months of age - then weakness begins - development slows & regresses - exaggerated startle response - death by 3
Fabry's disease Hunter's disease
Corneal clouding & mental retardation

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

19. Deficient in Fabry's disease
Alpha - galactosidase A
Hepatosplenomegaly - anemia - thrombocytopenia - 'crinkled paper' cells
Glucocerebroside in brain - liver - spleen - and bone marrow
Iduronate sulfatase

20. Accumulates in metachromatic leukodystrophy
Sphingomyelinase
Glucocerebroside in brain - liver - spleen - and bone marrow
Sulfatide in the brain - kidney - liver - and peripheral nerves
Renal failure - increased risk of stroke & MI

21. Deficient in metachromatic leukodystrophy
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
Renal failure - increased risk of stroke & MI
Arylsulfatase A

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