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4 Cards in this Set
- Front
- Back
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PKU ez, mendelian, accumulation product
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phenylalanine hydroxylase deficiency, AR, increase in Phe and decrease in Tyr
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Maternal PKU and trimester when management is crucial
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baby has risk of microcephaly, MR, and heart defects; strict diet is necessary 3 months PRIOR to conception
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biopterin and effect if deficient
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cofactor for Phenylalanine hydroxylase ez and many other hydroxylases; can cause PKU
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nonketotic hyperglycinemia and dx
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defect in glycine cleavage; increased glycine in CSF/plasma ration
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