Metabolomics can be described as a simultaneous and comprehensive analysis of small
molecules in a biological sample. Recent technological and bioinformatics advances
have facilitated large-scale metabolomic studies in many areas, including inborn errors
of metabolism (IEMs). Despite significant improvements in the diagnosis and treatment
of some IEMs, it is still challenging to understand how genetic variation affects
disease progression and susceptibility. In addition, a search for new more personalized
therapies and a growing demand for tools to monitor the long-term metabolic effects
of existing therapies set the stage for metabolomics integration in preclinical and
clinical studies. While targeted metabolomics approach is a common practice in biochemical
genetics laboratories for biochemical diagnosis and monitoring of IEMs, applications
of untargeted metabolomics in the clinical laboratories are still in infancy, facing
some challenges. It is however, expected in the future to dramatically change the
scope and utility of the clinical laboratory playing a significant role in patient
management. This review provides an overview of targeted and global, large-scale metabolomic
studies applied to investigate various IEMs. We discuss an existing and prospective
clinical applications of metabolomics in IEMs for better diagnosis and deep understanding
of complex metabolic perturbations associated with the etiology of inherited metabolic
disorders.
Abbreviations:
GC-MS (gas chromatography mass spectrometry), LC-MS (liquid chromatography mass spectrometry), CSF (Cerebrospinal fluid), IEM (inborn errors of metabolism), MALDI (matrix-assisted laser desorption ionization), SELDI (Surface-enhanced laser desorption/ionization), NMR (nuclear magnetic resonance), NBS (newborn screening), PKU (phenylketonuria), LCHAD (Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency), TFP (Trifunctional protein deficiency), MMA (methylmalonic acedimia), PA (propionic acedimia), OTC (Ornithine transcarbamylase deficiency), RDC (respiratory chain deficiencies), SLOS (Smith-Lemli Opitz syndrome), CTX (Cerebrotendinous xanthomatosis), RP (Reverse phase), HILIC (hydrophilic interaction liquid chromatography), ROC (receiver-operating characteristic), AUC (Area under the curve)To read this article in full you will need to make a payment
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Article info
Publication history
Published online: June 14, 2017
Accepted:
June 8,
2017
Received in revised form:
June 6,
2017
Received:
April 11,
2017
Identification
Copyright
© 2017 Elsevier Inc. All rights reserved.
