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