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