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Study of 3-0-Methyldopa quantification for possible integration into the portuguese newborn screening program

2024-11-19Master thesis Embargoed access
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dc.contributor.advisorRocha, Hugo Daniel Azevedo
dc.contributor.advisorSilva, Regina Augusta Alves Pereira da
dc.contributor.authorSantos, Raquel Alexandra Martins
dc.date.accessioned2025-03-06T12:31:49Z
dc.date.available2025-03-06T12:31:49Z
dc.date.issued2024-11-19
dc.date.submitted2024-11-19
dc.description.abstractAromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder that impairs neurotransmitter synthesis, leading to severe neurological and developmental symptoms. Early diagnosis through newborn screening is essential for timely and appropriate treatment. The quantification of 3-0-methyldopa (3-OMD), a metabolite that accumulates in AADC deficiency, in dried blood spot (DBS) samples is a viable and minimally invasive method for detecting this condition. This study assessed the feasibility of integrating 3-OMD quantification into the current protocol used in the Portuguese Newborn Screening Program using flow injection anlysis coupled with tandem mass spectometry (FIA-MS/MS). After the method was implemented and optimized, it was validated in terms of sensivity, specificity, and precision, without interfering with the detection of other biomarkers. For samples with elevated 3-OMD levels, a second-tier test using liquid chromatography-tandem mass spectometry (LC-MS/MS) was developed to resolve potential interferences. Although no cases of AADC deficiency were identified in this cohort, the method consistently quantified 3-OMD, detecting elevated levels in patients undergoing levodopa therapy. These results demonstrate that integrating 3-OMD quantification into the existing newborn screening workflow is feasible, presenting a promising approach for the early detection of AADC deficiency.por
dc.identifier.tid203878345
dc.identifier.urihttp://hdl.handle.net/10400.22/29804
dc.language.isoeng
dc.rights.uriN/A
dc.subjectAADC deficiency
dc.subject3-0-methyldopa
dc.subjectDried blood spots
dc.subjectMass spectometry
dc.subjectNewborn screening
dc.titleStudy of 3-0-Methyldopa quantification for possible integration into the portuguese newborn screening programpor
dc.typemaster thesis
dspace.entity.typePublication
thesis.degree.namePatologia Molecular

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