3-OMD Levels in Dried Blood Spots May Help to Diagnose AADC Deficiency

3-OMD Levels in Dried Blood Spots May Help to Diagnose AADC Deficiency

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3-OMD Levels in Dried Blood Spots May Help to Diagnose AADC Deficiency

Measuring 3-O-methyldopa (3-OMD) levels in dried blood spots could help in diagnosing aromatic L-amino-acid decarboxylase (AADC) deficiency, a recent study suggests. This approach would be less invasive for patients, who often undergo multiple lumbar punctures before a final diagnosis, and could be used to screen for the disease in newborns. The study “Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases” was published in the journal Molecular Genetics and…

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