Children suffering from the neurodevelopmental disorder are affected with early onset of neurological deterioration, seizures, extensive white matter abnormalities, cortical migrational abnormalities, lactic acidosis, and early demise.
Affected Biological Gender
Newborn Screening: Recommended Uniform Screening Panel (RUSP)
- Journal of Human Genetics, (March 2017)
Connecting with others impacted by a rare disease allows for vital information to be shared about day-to-day life, prevents isolation, and gives hope. Please contact MitoAction for peer support opportunities at 888-MITO-411 or email firstname.lastname@example.org.
Other resources we recommend are:
- New Patient Kit for Mitochondrial Conditions
- Planning for Emergencies
- Monthly Expert Series
- Energy in Action Podcast
MitoAction does not provide medical advice, diagnosis, treatment, or legal advice. It is essential that all those living with or caring for someone with a Mitochondrial or FAOD disease have an emergency protocol letter. These letters, which are written and signed by a doctor, share details about prescribed treatment during crises and in emergency room settings. Always check with your doctor if you or your child has concerns as everyone may present with symptoms differently. Before beginning any treatment or therapy, please consult with your physician.
Last Updated: 11/15/2022