Tandem mass spectrometry in discovery of disorders of the metabolome.
Genetic disorders of amino acid and fatty acid metabolism can be detected with tandem mass spectrometry (MS/MS). MS/MS screening of mice subjected to chemical mutagenesis (see the related article beginning on page 434) defined a new disorder of branched-chain amino acid metabolism resembling human maple syrup urine disease. This approach has general application to the discovery of gene function in developmental and metabolic disorders.
Strauss
Arnold W
AW
Department of Pediatrics, Vanderbilt Children's Hospital, Vanderbilt University, Nashville, Tennessee 37232, USA. arnold.strauss@vanderbilt.edu
D000818:Animals; D002623:Chemistry Techniques, Analytical; D004195:Disease Models, Animal; D013058:Mass Spectrometry; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D051379:Mice; D015027:Zebrafish / Q000235:genetics / Q000378:metabolism