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-MahmutogluPublished 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%.