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" |