Publication
Study of 3-0-Methyldopa quantification for possible integration into the portuguese newborn screening program
| dc.contributor.advisor | Rocha, Hugo Daniel Azevedo | |
| dc.contributor.advisor | Silva, Regina Augusta Alves Pereira da | |
| dc.contributor.author | Santos, Raquel Alexandra Martins | |
| dc.date.accessioned | 2025-03-06T12:31:49Z | |
| dc.date.available | 2025-03-06T12:31:49Z | |
| dc.date.issued | 2024-11-19 | |
| dc.date.submitted | 2024-11-19 | |
| dc.description.abstract | Aromatic 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.tid | 203878345 | |
| dc.identifier.uri | http://hdl.handle.net/10400.22/29804 | |
| dc.language.iso | eng | |
| dc.rights.uri | N/A | |
| dc.subject | AADC deficiency | |
| dc.subject | 3-0-methyldopa | |
| dc.subject | Dried blood spots | |
| dc.subject | Mass spectometry | |
| dc.subject | Newborn screening | |
| dc.title | Study of 3-0-Methyldopa quantification for possible integration into the portuguese newborn screening program | por |
| dc.type | master thesis | |
| dspace.entity.type | Publication | |
| thesis.degree.name | Patologia Molecular |