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