Tandem mass spectrometry in discovery of disorders of the metabolome.
Level V
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- Record sourced from PubMed, PMID 14755332.
- Also identified by PMC identifier 324547.
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Abstract
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.
Medical subject headings
- Chemistry Techniques, Analytical
- Metabolism, Inborn Errors