Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation.

@article{Wanders1992HumanTP,
  title={Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation.},
  author={Ronald Wanders and Lodewijk van Ijlst and Florence Poggi and J. P. Bonnefont and Arnold Munnich and Mich{\`e}le Brivet and Daniel Rabier and J M Saudubray},
  journal={Biochemical and biophysical research communications},
  year={1992},
  volume={188 3},
  pages={1139-45}
}
In this paper we report the identification of a new disorder of mitochondrial fatty acid beta-oxidation in a patient which presented with clear manifestations of a mitochondrial beta-oxidation disorder. Subsequent studies in fibroblasts revealed an impairment in palmitate beta-oxidation and in addition, a combined deficiency of long-chain enoyl-CoA hydratase, long-chain 3-hydroxyacyl-CoA-dehydrogenase and long-chain 3-oxoacyl-CoA thiolase. The recent identification of a multifunctional… CONTINUE READING

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