Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
9 Cards in this Set
- Front
- Back
Signs of a metabolic disorder include
|
illness, vomiting, poor growth/FTT, DD/MR, regression, hypo/hypertonia, seizures, unusual ordors, corase facial features
|
|
Signs of a metabolic disorder mimic
|
serious infection, must be ruled out
|
|
NBS criteria inculde
|
Disease-high incidence, available interventions
Tests- simple, reliable, accurrate, cheap Program-universal and uniform, follow-up, Dx, management, and Tx, favorable risk/benefit ratio |
|
List every test on the WI NBS pannel
|
Just kidding :-)
hope you're enjoying the flashcards. Good luck studying!! |
|
Treatment of PKU includes
|
1. limit phenylalanie
2. provide medical food 3. provide low protein foods to sup. diet 4. provide vitamin and mineral supplements |
|
Which AA should be supplemented as part of PKU tx
|
tyrosine
|
|
What is the cause of Maple Syrup Urine Disease (MSUD)
|
disorder of branched chain amino acid degradation,
defective branched chain alpha ketoacid dehydrogenase complex (BCKAD) |
|
How should MSUD be treated
|
-limit branched chain AAs (leucine, isoleucine, valine) by restricting complete protein
-agressive Tx when sick, use IV D10, -liver transplant |
|
Medical goals for PKU treatment incdlue
|
-Decrease PHE
-Maintain overall health while on restricted diet -new option = bipterin therapy, most efffective for 2% w/ THB deficiency |