Disorders of mitochondrial fatty acyl-CoA β-oxidation

  title={Disorders of mitochondrial fatty acyl-CoA $\beta$-oxidation},
  author={Ronald J. A. Wanders and Peter Vreken and Margarethe E J Den Boer and F. A. Wijburg and Albert H. van Gennip and Lodewijk Ijlst},
  journal={Journal of Inherited Metabolic Disease},
In recent years tremendous progress has been made with respect to the enzymology of the mitochondrial fatty acid β-oxidation machinery and defects therein. Firstly, a number of new mitochondrial β-oxidation enzymes have been identified, including very-long-chain acyl-CoA dehydrogenase (VLCAD) and mitochondrial trifunctional protein (MTP). Secondly, the introduction of tandem MS for the analysis of plasma acylcarnitines has greatly facilitated the identification of patients with a defect in… 

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