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