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  1. Disorders of Intracellular Cobalamin Metabolism - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1328
    ... relies on the following testing ( Table 2 ): Urine organic acid (UOA) analysis to screen for elevation of ... Resources & Services Administration newbornscreening.hrsa.gov/your-state Organic Acidemia Association Phone: 763-559-1797 Email: info@ ...
  2. Barth Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK247162
    ... 3-MGC), and 2-ethylhydracrylic acid on urine organic acids analysis 3-MGC is typically increased five- ... 4061 Email: bsfinfo@barthsyndrome.org www.barthsyndrome.org Organic Acidemia Association Phone: 763-559-1797 Email: info@ ...
  3. Isovaleric acidemia 
    https://medlineplus.gov/genetics/condition/isovaleric-acidemia
    ... organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems.Normally, the body breaks down proteins from food into smaller parts called amino acids. Amino acids ...
  4. Classic Isovaleric Acidemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK601614
    ... Resources & Services Administration newbornscreening.hrsa.gov/your-state Organic Acidemia Association Phone: 763-559-1797 Email: info@ ...
  5. Isolated Methylmalonic Acidemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1231
    ... Resources & Services Administration newbornscreening.hrsa.gov/your-state Organic Acidemia Association Phone: 763-559-1797 Email: info@ ...
  6. Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK97260
    ... concentration to evaluate for conditions including the following: Organic acidemias (present with acidosis) Lysinuric protein intolerance (associated ... may be indistinguishable from primary mitochondrial disease , urine organic acid analysis should also be ordered. In some ...
  7. Glutaric Acidemia Type 1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK546575
    ... Resources & Services Administration newbornscreening.hrsa.gov/your-state Organic Acidemia Association Phone: 763-559-1797 Email: info@ ... J, Dionisi-Vici C. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the ...
  8. Citrullinemia Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1458
    ... increased; these are surrogate markers of hyperammonemia. Urinary organic acid analysis may be normal, although orotic acid may be detected as part of urinary organic acid analysis by gas chromatography/mass spectrometry, especially ...
  9. Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK583531
    ... C16-OH/C16 and C18-OH/C18. Urine organic acid analysis. Elevations of 3-hydroxy-dicarboxylic acids ... Plasma free & total carnitine, plasma acylcarnitine profile, & urine organic acids To be obtained during period of acute ...
  10. Ornithine Transcarbamylase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK154378
    ... or OTC deficiency. Elevated orotic acid on urine organic acid (UOA) analysis. Orotic acid concentration is elevated ... its presence clearly distinguishes a UCD from an organic acidemia presenting with hyperammonemia and ketoacidosis. However, when ...
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