Deficiency of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase: A Cause of Lethal Myopathy and Cardiomyopathy in Early Childhood

@article{Rocchicciolo1990DeficiencyOL,
  title={Deficiency of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase: A Cause of Lethal Myopathy and Cardiomyopathy in Early Childhood},
  author={Francis Rocchicciolo and Ronald J. A. Wanders and Patrick R Aubourg and Christine Vianey-Liaud and Lodadwyk Ijlst and Monique Fabr{\`e} and Nathalie Cartier and P Bougn{\`e}res},
  journal={Pediatric Research},
  year={1990},
  volume={28},
  pages={657-662}
}
ABSTRACT: A child presented in early childhood with episodes of coma and hypoglycemia and a rapidly evolutive myopathy and cardiomyopathy leading to death at 9 mo of age. Ketosis was decreased (blood β-hydroxybutyrate: 0.07 mmol/L) despite normal plasma levels of fatty acids (0.81 mmol/L). The patient's urine contained excessive amounts of the C6 to C10 dicarboxylic acids present in almost all defects of fatty acid mitochondrial oxidation. More specifically, gas chromatography-mass spectrometry… CONTINUE READING

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