Long-Chain Fatty Acid Oxidation during Early Human Development

  title={Long-Chain Fatty Acid Oxidation during Early Human Development},
  author={Nadia A. Oey and Margarethe E J Den Boer and Frits A. Wijburg and Michel Vekemans and Jołle Aug{\'e} and C{\'e}line Steiner and Ronald J. A. Wanders and H. R. Waterham and Jos P. N. Ruiter and Tania Atti{\'e}-Bitach},
  journal={Pediatric Research},
Patients with very long-chain acyl-CoA dehydrogenase (VLCAD) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD)/mitochondrial trifunctional protein (MTP) deficiency, disorders of the mitochondrial long-chain fatty acid oxidation, can present with hypoketotic hypoglycemia, rhabdomyolysis, and cardiomyopathy. In addition, patients with LCHAD/MTP deficiency may suffer from retinopathy and peripheral neuropathy. Until recently, there was no indication of intrauterine morbidity in these… CONTINUE READING