Publication: Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases

This research article, published in Molecular Genetics and Metabolism Reports, evaluates and validates 3-O-methyldopa (3-OMD) as a biomarker for aromatic L-amino acid decarboxylase (AADC) deficiency

  • Learn about the validation of 3-OMD as a reliable and stable marker for the identification of AADC deficiency, using dried blood spot (DBS) samples of 7 AADC deficiency patients and 35 non-AADC deficiency controls
  • Understand the limitations of current diagnostic tests for AADC deficiency
  • Recognize the potential utility of 3-OMD quantification performed in DBS’ in newborn screening

Kubaski F, et al. Mol Genet Metab Rep. 2021;27:100744

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MED-ALL-AADC-2200023 | October 2023
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