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