Save
Busy. Please wait.
Log in with Clever
or
show password
Forgot Password?
Don't have an account?  Sign up 
Sign up using Clever
or
Username is available taken
show password


Make sure to remember your password. If you forget it there is no way for StudyStack to send you a reset link. You would need to create a new account. Your email address is only used to allow you to reset your password. See our Privacy Policy and Terms of Service.

Already a StudyStack user? Log In

Reset Password
Enter the associated with your account, and we'll email you a link to reset your password.
focusNode
Didn't know it?
click below
 
Knew it?
click below
Don't Know
Remaining cards (0)
Know
0:00
edit
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

Biochemistry

Glycogen Storage Diseases

QuestionAnswer
Symptoms of Fabry’s Peripheral neuropathy of hands/feet, angiokeratomas, CV/renal disease, reddish purple skin
Defective enzyme in Fabry’s alpha-galactosidase
Substrate accumulated in Fabry’s Ceramide trihexoside
Inheritance of Fabry’s x-linked recessive
Symptoms of Gaucher’s Hepatosplenomegaly, aseptic necrosis of the femur, bone crises, osteoperosis of long bones, Gaucher’s cells (macrophages that look liked wrinkled tissue paper)
Defective enzyme in Gaucher’s beta-glucocerebrosidase
Accumulated substrate in Gaucher’s glucocerebroside
Inheritance of Gaucher’s autosomal recessive
Symptoms of Niemann-Pick Progressive neurodegeneration, hepatosplenomegaly, cherry red spot on macula, foam cells
Defective enzyme in Niemann-Pick sphingomyelinase
Accumulated substrate in Niemann-Pick sphingomyelin
Inheritance of Niemann-Pick autosomal recessive
Symptoms of Tay-Sachs Progressive neurodegeneration, developmental delay, cherry-red spot on macula, seizures, muscle weakness, lysosomes with onion skin
Defective enzyme in Tay-Sachs Hexosaminidase A
Accumulated substrate in Tay-Sachs GM2 ganglioside
Inheritance of Tay-Sachs autosomal recessive
Symptoms of Krabbe’s Peripheral neuropathy, developmental delay, optic atrophy- blindness, deafness, globoid cells (glycolipid-laden macrophages) in white matter of brain
Defective enzyme in Krabbe’s galactocerebrosidase
Accumulated substrate in Krabbe’s galactocerebroside
Inheritance of Krabbe’s autosomal recessive
Symptoms of Metachromatic leukodystrophy central and peripheral demyelination with ataxia, dementia, nerves stain yellowish-brown with cresyl violet (metachromasia)
Defective enzyme in Metachromatic leukodystrophy Arylsulfatase A
Accumulated substrate in Metachromatic leukodystrophy cerebroside sulfate
Inheritance of Metachromatic leukodystrophy autosomal recessive
Symptoms of Hurler’s developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
Defective enzyme in Hurler’s alpha-L-iduronidase
Accumulated substrate in Hurler’s Heparan sulfate, dermatan sulfate
Inheritance of Hurler’s autosomal recessive
Symptoms of Hunter’s Mild Hurler’s + aggressive behavior, no corneal clouding
Defective enzyme in Hunter’s iduronate sulfatase
Accumulated substrate in Hunter’s heparan sulfate, dermatan sulfate
Inheritance of Hunter’s x-linked recessive
Symptoms of Tay-Sachs Progressive neurodegeneration, developmental delay, cherry-red spot on macula, seizures, muscle weakness, lysosomes with onion skin
Defective enzyme in Tay-Sachs Hexosaminidase A
Accumulated substrate in Tay-Sachs GM2 ganglioside
Inheritance of Tay-Sachs autosomal recessive
Symptoms of Krabbe’s Peripheral neuropathy, developmental delay, optic atrophy- blindness, deafness, globoid cells (glycolipid-laden macrophages) in white matter of brain
Defective enzyme in Krabbe’s galactocerebrosidase
Accumulated substrate in Krabbe’s galactocerebroside
Inheritance of Krabbe’s autosomal recessive
Symptoms of Metachromatic leukodystrophy central and peripheral demyelination with ataxia, dementia, nerves stain yellowish-brown with cresyl violet (metachromasia)
Defective enzyme in Metachromatic leukodystrophy Arylsulfatase A
Accumulated substrate in Metachromatic leukodystrophy cerebroside sulfate
Inheritance of Metachromatic leukodystrophy autosomal recessive
Symptoms of Hurler’s developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
Defective enzyme in Hurler’s alpha-L-iduronidase
Accumulated substrate in Hurler’s Heparan sulfate, dermatan sulfate
Inheritance of Hurler’s autosomal recessive
Symptoms of Hunter’s Mild Hurler’s + aggressive behavior, no corneal clouding
Defective enzyme in Hunter’s iduronate sulfatase
Accumulated substrate in Hunter’s heparan sulfate, dermatan sulfate
Inheritance of Hunter’s x-linked recessive
Which diseases are associated with Ashkenazi Jews? Tay-Sachs, Niemann-Pick, and Gaucher's
Which diseases present with a cherry-red spot on the macula? Niemann-Pick, Tay-Sachs
Which diseases present with peripheral neuropathy? Fabry's, Krabbe's
Which diseases present with hepatosplenomegaly? Gaucher's, Niemann-Pick
Which disease is the most common? Gaucher's
Which diseases present with progressive neurodegeneration? Niemann-Pick, Tay-Sachs, Metachromatic leukodystrophy
Angiokeratomas Fabry's
Macrophages that look liked wrinkled paper Gaucher's
Foam cells Niemann-Pick
Lysosomes with onion skin Tay-Sachs
Globoid cells Krabbe's
Nerves stain yellow-brown with cresyl violet Metachromatic leukodystrophy
Gargoylism Hurler's
Aggresive behavior Hunter's
Created by: csevilla
Popular USMLE sets

 



Voices

Use these flashcards to help memorize information. Look at the large card and try to recall what is on the other side. Then click the card to flip it. If you knew the answer, click the green Know box. Otherwise, click the red Don't know box.

When you've placed seven or more cards in the Don't know box, click "retry" to try those cards again.

If you've accidentally put the card in the wrong box, just click on the card to take it out of the box.

You can also use your keyboard to move the cards as follows:

If you are logged in to your account, this website will remember which cards you know and don't know so that they are in the same box the next time you log in.

When you need a break, try one of the other activities listed below the flashcards like Matching, Snowman, or Hungry Bug. Although it may feel like you're playing a game, your brain is still making more connections with the information to help you out.

To see how well you know the information, try the Quiz or Test activity.

Pass complete!
"Know" box contains:
Time elapsed:
Retries:
restart all cards