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32 Cards in this Set

  • Front
  • Back
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

"NO MAN PICKS (NIEMANN-PICK) his nose with his SPHINGER (SPHINGOMYELINASE)."
What is the DEFICIENT ENZYME in Tay-Sach's disease?
Hexosaminidase A;

"Tay-SaX (TAY-SACHS) lacks 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"
(XLR)