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32 Cards in this Set
- Front
- Back
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What are the FINDINGS in Fabry's disease?
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1. peripheral neuropathy of hands/feet
2. angiokeratomas 3. cardiovascular/renal disease |
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What are the FINDINGS in Gaucher's disease?
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1. hepatosplenomegaly
2. asceptic necrosis of femur 3. bone crises 4. Gaucher's cells (macrophages) |
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What are the FINDINGS in Niemann-Pick disease?
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1. progressive neurodegeneration
2. hepatosplenomegaly 3. cherry red spot (on macula) |
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What are the FINDINGS in Tay-Sachs disease?
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1. progressive neurodegeneration
2. developmental delay 3. cherry-red spot 4. lysozymes with onion skin |
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What are the FINDINGS in Krabbe's disease?
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1. peripheral neuropathy
2. developmental delay 3. optic atrophy |
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What are the FINDINGS in Metachromatic leukodystrophy disease?
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1. Central and peripheral demyelination
2. ataxia 3. dementia |
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What are the FINDINGS in Hurler's Syndrome?
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1. Developmental delay
2. gargoylism 3. airway obstruction 4. corneal clouding 5. hepatosplenomegaly |
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What are the FINDINGS in Hunter's Syndrome?
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1. aggressive behavior
2. NO corneal clouding 3. Mild Hurler's 4. developmental delay 5. gargoylism 6. airway obstruction 7. hepatosplenomegaly |
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What is the DEFICIENT ENZYME in Fabry's disease?
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alpha-galactosidase A
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What is the DEFICIENT ENZYME in Gaucher's disease?
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beta-glucocerebrosidase
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What is the DEFICIENT ENZYME in Niemann-Pick disease?
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sphingomyelinase
"NO MAN PICKS (NIEMANN-PICK) his nose with his SPHINGER (SPHINGOMYELINASE)." |
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What is the DEFICIENT ENZYME in Tay-Sach's disease?
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Hexosaminidase A;
"Tay-SaX (TAY-SACHS) lacks heXosaminidase." |
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What is the DEFICIENT ENZYME in Krabbe's disease?
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beta-galactosidase
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What is the DEFICIENT ENZYME in Metachromatic Leukodystrophy disease?
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Arylsulfatase A
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What is the DEFICIENT ENZYME in Hurler's syndrome?
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alpha-L-iduronidase
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What is the DEFICIENT ENZYME in Hunter's syndrome?
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Iduronate sulfatase
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What is the ACCUMULATED SUBSTRATE in Fabry's disease?
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Ceramide trihexoside
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What is the ACCUMULATED SUBSTRATE in Gaucher's disease?
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glucocerebroside
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What is the ACCUMULATED SUBSTRATE in Niemann-Pick disease?
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Sphingomyelin
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What is the ACCUMULATED SUBSTRATE in Tay-Sachs disease?
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GM2 ganglioside
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What is the ACCUMULATED SUBSTRATE in Krabbe's disease?
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Galactocerebroside
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What is the ACCUMULATED SUBSTRATE in Metachromatic Leukodystrophy?
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Cerebroside sulfate
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What is the ACCUMULATED SUBSTRATE in Hurler's syndrome?
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1. Heparan sulfate
2. Dermatan sulfate |
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What is the ACCUMULATED SUBSTRATE in Hunter's syndrome?
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1. Heparan sulfate
2. Dermatan sulfate |
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What is the INHERITANCE of Fabry's disease?
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XLR
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What is the INHERITANCE of Gaucher's disease?
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AR
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What is the INHERITANCE of Niemann-Pick disease?
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AR
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What is the INHERITANCE of Tay Sach's disease?
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AR
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What is the INHERITANCE of Krabbe's disease?
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AR
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What is the INHERITANCE of Metachromatic Leukodystrophy disease?
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AR
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What is the INHERITANCE of Hurler's syndrome?
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AR
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What is the INHERITANCE of Hunter's syndrome?
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XLR;
"HUNTERS aim for the X" (XLR) |
