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