Líffræðifélag Íslands - biologia.is
Líffræðiráðstefnan 2025
Erindi/veggspjald / Talk/poster V72
Höfundar / Authors: Ingvi Karl Jónsson (1), Freyr Jóhannsson (2), Margrét Þorsteinsdóttir (3,4), Finnur Freyr Eiríksson (4), Leifur Franzson (2), Jón Jóhannes Jónsson (1,2), Óttar Rolfsson (1)
Starfsvettvangur / Affiliations: 1. Læknadeild, Háskóli Íslands | 2. Erfða- og sameindalæknisfræðideild, Landspítali | 3. Lyfjafræðideild, Háskóli Íslands | 4. ArcticMass, Reykjavík
Kynnir / Presenter: Ingvi Karl Jónsson
INTRODUCTION Newborn screening quantifies biomarkers for inborn errors of metabolism. If not diagnosed, the disorders can lead to coma and death. Routine screening does not resolve critical analytes and fails to detect multiple biomarkers. Additional assays are required such as LC-MS/MS to provide a comprehensive metabolic profile of newborns: amino acids (AA), urinary organic acids (OA) and acyl carnitines (AC). METHODS Plasma and urine are protein precipitated with methanol, and DBS are extracted with methanol before derivatization with 3-nitrophenylhydrazine. LC-MS/MS analysis is performed with Acquity UPLC I-Class coupled to Xevo TQ-XS. Compounds are resolved in three 10-minute methods, all using a Waters Acquity HSS T3 1.8 µm (2.1 x 100 mm) column and 0.1% (v/v) acetic acid in water (MPA) and acetonitrile (MPB). RESULTS The AA assay quantifies over 30 AA‘s, showing potential for diagnosis of amino acidopathies. The OA assay resolves multiple organic acids from isobaric species, showing potential for differential diagnosis of organic acidemias. Acyl carnitines are quantified in 5 minutes, showing potential for rapid profiling of fatty acid beta oxidation defects. DISCUSSION AA, OA and AC profiles are vital for the correct diagnosis of inborn errors of metabolism. The assays presented achieve resolution and quantification of multiple biomarkers in human matrices, showing the potential of the assays to be incorporated into newborn screening once they have been validated.