MSACL 2018 EU Abstract

Self-Classified Topic Area(s): Small Molecules

First Experience with a Second-Tier LC-MS/MS Assay for Newborn Screening of Propionic Acidemia, Methylmalonic Acidemias and Combined Remethylation Disorders

Péter Monostori1*, Glynis Klinke1*, Sylvia Richter1, Ákos Baráth2, Ralph Fingerhut3, Matthias R. Baumgartner3, Stefan Kölker1, Georg F. Hoffmann1, Gwendolyn Gramer1*, Jürgen G. Okun1*
1 Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany 2 Department of Pediatrics, University of Szeged, Szeged, Hungary 3 Children’s Research Center, Division of Metabolism, University Children’s Hospital Zurich, Zurich, Switzerland

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Glynis Klinke (Presenter)
University of Heidelberg

Presenter Bio: Currently working as post-doc on LC-MS/MS method establishment in the field of biomarker analysis of neurological impairment in the context of inborn errors of metabolism at the Metabolic Centre of Heidelberg, Germany. I mainly gained my experience during my PhD in the Division of Clinical Chemistry and Biochemistry at the University Children’s Hospital Zurich, Switzerland working on the Oxysterol Signature as putative biomarker in Niemann-Pick Type C and Inflammatory Bowel Diseases. I obtained my Master with specialization on the analysis of natural plant products for pharmacy purposes and my Bachelor degree in Chemistry-Biology at the University of Strasbourg, France.

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Abstract

Increased propionylcarnitine levels in newborn screening are indicative for disorders such as propionic acidemia (PA), methylmalonic acidemia and combined remethylation disorders (MMACBL). Elevated propionylcarnitine occurs relatively frequently and requires a differential diagnosis. Thus, we aimed to develop a second-tier assay for concurrent determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid. The assay was developed using liquid chromatography coupled to tandem mass spectrometry, and clinically validated with retrospective analysis of DBS samples from PA or MMACBL patients. All three analytes were determined by this simple and fast assay, allowing a more specific and reliable identification of PA, MMACBL in stored newborn samples.