FA Biochemistry Lysosomal Storage Diseases
Terms
undefined, object
copy deck
- 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)