PPM- Analysis of Urine Organic Acids-Description and References

Description and References

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The document discusses the analysis of urine organic acids, primarily focusing on the interpretation and reporting of these acids. Organic acids are compounds found in bodily fluids, particularly urine, that reflect intermediate species of biochemical reactions. In patients with various deficiencies and disorders, specific biochemical reactions are affected, leading to the accumulation of specific organic acids in urine. The excretion of organic acids is influenced by the clinical status of the patient.<br /><br />Analyzing organic acids in urine is important for screening inborn errors of metabolism, following up on abnormal newborn screening results, and managing patients with established diagnoses. Gas chromatography-mass spectrometry (GC-MS) is commonly used to measure organic acids qualitatively or quantitatively. Geneticists in the laboratory should carefully review each chromatogram to avoid missing clinically relevant organic acids that may be present in low abundance or co-elute with other compounds.<br /><br />Reports of urine organic acid analysis should always include an interpretation that discusses the potential significance of abnormal compounds identified, a differential diagnosis for the results, and recommendations for follow-up testing if necessary. The document encourages the implementation of recommendations from the American College of Medical Genetics and Genomics (ACMG) for the appropriate performance of organic acid analysis.<br /><br />The document also mentions that specific organic acids can be detected in urine or blood using targeted techniques, although the focus of this module is on untargeted urine organic acid analysis by GC-MS.<br /><br />References are provided for further reading on the subject, including a technical standard from the ACMG and a laboratory guide to methods in biochemical genetics.<br /><br />In summary, the document emphasizes the importance of analyzing urine organic acids, provides guidelines for their analysis, and highlights the need for accurate interpretation and reporting of results.

Keywords

urine organic acids

interpretation

reporting

biochemical reactions

deficiencies

disorders

inborn errors of metabolism

newborn screening

gas chromatography-mass spectrometry

geneticists