MRMS-based detection of inherited metabolic diseases using the aXelerate® workflow

Join us at this live lab and learn more about MRMS-based detection of inherited metabolic diseases.

Inherited metabolic diseases (IMDs) are single-gene disorders that are rare but carry substantial potential for detriment to the health and quality of life of affected patients, especially if undiagnosed and untreated. Consequently, newborn screening efforts aim to identify IMDs early in life, allowing medical and/or nutritional intervention during critical developmental years and onward throughout life.

Here we show screening urine of children for phenylketonuria (PKU) to exemplify the utility of magnetic resonance mass spectrometry (MRMS) in the rapid detection and monitoring IMDs based diseases. MRMS aXelerate® workflow provides an LC-free solution capable of rapid screening of complex biofluids. Using Bruker’s MetaboScape software, measured signals are assigned by accurate molecular formulae and metabolites from databases using accurate mass, isotopic fine structure (IFS), and true isotopic pattern.

The workflow allows the simultaneous detection of both polar and non-polar metabolites, without the need for developing and deploying multiple orthogonal LC-MS methods within a 2.5 minute cycle time for high throughput screening. MRMS aXelerate® can be used for high throughput screening, disease detection, and complex metabolic fingerprinting applications for instance in clinical research environments.