| 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" |
