TY - JOUR
T1 - Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics era
AU - Wanders, Ronald J. A.
AU - Vaz, Frederic M.
AU - Ferdinandusse, Sacha
AU - van Kuilenburg, André B. P.
AU - Kemp, Stephan
AU - van Karnebeek, Clara D.
AU - Waterham, Hans R.
AU - Houtkooper, Riekelt H.
N1 - © 2018 SSIEM.
PY - 2019/3/1
Y1 - 2019/3/1
N2 - The laboratory diagnosis of inborn errors of metabolism has been revolutionized in recent years, thanks to the amazing developments in the field of DNA sequencing including whole exome and whole genome sequencing (WES and WGS). Interpretation of the results coming from WES and/or WGS analysis is definitely not trivial especially since the biological relevance of many of the variants identified by WES and/or WGS, have not been tested experimentally and prediction programs like POLYPHEN-2 and SIFT are far from perfect. Correct interpretation of WES and/or WGS results can only be achieved by performing functional studies at multiple levels (different metabolomics platforms, enzymology, in vitro and in vivo flux analysis), often requires studies in model organisms like zebra fish, Caenorhabditis elegans, Saccharomyces cerevisiae, mutant mice and others, and also requires the input of many different disciplines to make this Translational Metabolism approach effective.
AB - The laboratory diagnosis of inborn errors of metabolism has been revolutionized in recent years, thanks to the amazing developments in the field of DNA sequencing including whole exome and whole genome sequencing (WES and WGS). Interpretation of the results coming from WES and/or WGS analysis is definitely not trivial especially since the biological relevance of many of the variants identified by WES and/or WGS, have not been tested experimentally and prediction programs like POLYPHEN-2 and SIFT are far from perfect. Correct interpretation of WES and/or WGS results can only be achieved by performing functional studies at multiple levels (different metabolomics platforms, enzymology, in vitro and in vivo flux analysis), often requires studies in model organisms like zebra fish, Caenorhabditis elegans, Saccharomyces cerevisiae, mutant mice and others, and also requires the input of many different disciplines to make this Translational Metabolism approach effective.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85062764852&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/30723938
U2 - https://doi.org/10.1002/jimd.12008
DO - https://doi.org/10.1002/jimd.12008
M3 - Review article
C2 - 30723938
SN - 0141-8955
VL - 42
SP - 197
EP - 208
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
IS - 2
ER -