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