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Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic.

Anastasia AmbroseMelissa SheehanShalini BahlTaryn AtheyShailly Ghai-JainAlicia ChanSaadet Mercimek-Mahmutoglu
Published in: Orphanet journal of rare diseases (2022)
Seven different mitochondrial long-chain fatty acid oxidation and carnitine metabolism defects were present in our study cohort. In our clinic, the prevalence of mitochondrial long-chain fatty acid oxidation and carnitine defects was 4.75%.
Keyphrases
  • fatty acid
  • oxidative stress
  • hydrogen peroxide
  • primary care
  • risk factors
  • electron transfer
  • type diabetes
  • visible light
  • insulin resistance