LysStorageDz
Quiz yourself by thinking what should be in
each of the black spaces below before clicking
on it to display the answer.
Help!
|
|
||||
---|---|---|---|---|---|
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"
🗑
|
Review the information in the table. When you are ready to quiz yourself you can hide individual columns or the entire table. Then you can click on the empty cells to reveal the answer. Try to recall what will be displayed before clicking the empty cell.
To hide a column, click on the column name.
To hide the entire table, click on the "Hide All" button.
You may also shuffle the rows of the table by clicking on the "Shuffle" button.
Or sort by any of the columns using the down arrow next to any column heading.
If you know all the data on any row, you can temporarily remove it by tapping the trash can to the right of the row.
To hide a column, click on the column name.
To hide the entire table, click on the "Hide All" button.
You may also shuffle the rows of the table by clicking on the "Shuffle" button.
Or sort by any of the columns using the down arrow next to any column heading.
If you know all the data on any row, you can temporarily remove it by tapping the trash can to the right of the row.
Embed Code - If you would like this activity on your web page, copy the script below and paste it into your web page.
Normal Size Small Size show me how
Normal Size Small Size show me how
Created by:
Asclepius
Popular USMLE sets