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