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120 results
  1. Serum phenylalanine screening 
    https://medlineplus.gov/ency/article/003362.htm
    Phenylalanine - blood test; PKU - phenylalanine ... mixed with a type of bacteria that needs phenylalanine to grow. Another substance that blocks phenylalanine from ...
  2. Phenylalanine Hydroxylase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1504
    ... Search term GeneReviews Advanced Search Help < Prev Next > Phenylalanine Hydroxylase Deficiency Synonym: PAH Deficiency Debra S Regier , ... PKU . Treatment of Classic PKU Restriction of dietary phenylalanine. The generally accepted goal of treatment for individuals ...
  3. MedlinePlus Drug Information: Sapropterin 
    https://medlineplus.gov/druginfo/meds/a608020.html
    ... along with a restricted diet to control blood phenylalanine levels in adults and children 1 month of ... have phenylketonuria (PKU; an inborn condition in which phenylalanine may build up in the blood and causes ...
  4. MedlinePlus Drug Information: Pegvaliase-pqpz Injection 
    https://medlineplus.gov/druginfo/meds/a618057.html
    ... along with a specific diet to reduce blood phenylalanine levels in people who have phenylketonuria (PKU; an inborn condition in which phenylalanine may build up in the blood and causes ...
  5. Phenylketonuria 
    https://medlineplus.gov/phenylketonuria.html
    In phenylketonuria (PKU), your body can't process phenylalanine, an amino acid in most foods. Read about ... you have it, your body can't process phenylalanine (Phe). Phe is an amino acid, a building ...
  6. Tyrosinemia Type II - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK608431
    ... a cure . —ED Restriction of dietary tyrosine and phenylalanine. Targeted therapy for tyrosinemia type II aims to ...
  7. Tyrosinemia Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1515
    ... acids. Elevated plasma concentration of tyrosine, methionine, and phenylalanine Note: (1) Plasma tyrosine concentration in affected infants ... urine; elevated plasma concentrations of tyrosine, methionine, and phenylalanine; and elevated urinary concentration of tyrosine metabolites and ...
  8. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a protein building block (an amino acid) ... some artificial sweeteners. If PKU is not treated, phenylalanine can build up to harmful levels in the ...
  9. Phenylketonuria 
    https://medlineplus.gov/ency/article/001166.htm
    ... to properly break down an amino acid called phenylalanine. ... Babies with PKU are missing an enzyme called phenylalanine hydroxylase. It is needed to break down the ...
  10. Sepiapterin Reductase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK304122
    ... is widely available or commonly used. (4) A phenylalanine load test [ Hyland et al 1997 ], which is ... CSF neurotransmitters are not available. While an abnormal phenylalanine load is suggestive, it is not diagnostic of ...
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