MassChrom® Amino Acids and Acylcarnitines from Dried Blood / Non Derivatised - LC-MS/MS

Clinical relevance

Newborn screening aims to detect congenital metabolic disorders early on before they can cause harm to the organism. Included in these diseases are defects of amino acid metabolism such as phenylketonuria (PKU) and maple syrup urine disease (MSUD), defects of fatty acid metabolism and organic acidurias (isovaleric acidemia). If these diseases are not diagnosed, the metabolic disorders can already lead to severe irreversible harm to the newborns within their first few days of life.

Mass spectrometry is the method of choice for diagnostic testing: it enables to check for a broad range of metabolic defects in a single run. An HPLC column is not required due to the high selectivity of LC-MS/MS. This makes it possible to achieve a very precise quantification in a very short analysis time of less than 2 minutes.

Product advantages

• Simple SUAC determination with upgrade set
• Screening for many metabolic disorders in a single run such as PKU (Phenylketonuria), MSUD (Maple Syrup Urine Disease) and tyrosinemia type I
• Each analyte safeguarded by its own internal standard

This Chromsystems assay allows the fast and reliable determination of amino acids, acylcarnitines and succinylacetone from dried blood spot samples as part of the newborn screening for amino acid and fatty acid metabolic disorders using tandem mass spectrometry. Sample preparation is based on effective extraction of the analytes from the blood spot without any further sample preparation steps required. The use of stable isotope labelled internal standards for calibration and measurement ensures reliable and precise quantification of the analytes.

For the analysis of succinylacetone an upgrade set is available (order no. 57111/F).

Here's an overview of all our newborn screening assays.