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
share
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

Metabolic Final

QuestionAnswer
Common amino aciduria PKU, maple syrup urine disease, homocystinuria, non-ketotic hyperglycinemia
PKU amino acid Phenylalanine
PKU Diagnostic test Plasma phenylalanine & tyrosine
Type of amino aciduria MSUD branched chain amino aciduria- thiamine
MSUD neonatal presentation acute dehydration, deteriorating neurological function and vomiting, cerebral edema, maple syrup smell in body discharges, FTT, neurological deterioration, minor presentations involve episodic illnesses
Therapy MSUD stop natural protein intake, rehydrate with 10% glucose and insulin drip to promote anabolism, liver transplant?
Homocystinuria is called by what deficiency cystathionine beta-synthase
Homocystinuria can be responsive or non-responsive to what? B12
Homocystinuria clinical presentation developmental delay/MR, ectopic lentis and/or severe myopia, skeletal abnormalities such as excessive height/length of limbs, vascular abnormalities (thromboembolism), marfan like appearance
Homocystinuria treatment B12, protein restriction of methionine, betaine treatment, preventative measures to avoid thromboembolism
Nonketotic hyperglycinemia Deficiency of glycine (encephalopathy)
Neonatal presentation nonketotic hyperglycemia newborn seizures, myoclonic jerks, progressive lethargy. hypotonia, intractable seizures, death in infancy
Created by: KChatham
Popular Genetics 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