General Info
Overview
Carnitine Deficiency – certain fats cannot be utilized for energy, particularly during periods of fasting. Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. Clinical symptoms typically appear during infancy or early childhood and can include severe brain dysfunction (encephalopathy), a weakened and enlarged heart (cardiomyopathy), confusion, vomiting, muscle weakness, and low blood sugar (hypoglycemia). The severity of this condition varies among affected individuals. Individuals with this disorder are at risk for heart failure, liver problems, coma, and sudden death. Treatment includes avoidance of fasting and carnitine supplementation.
Frequency
Affected Biological Gender
Male
Diagnosis
Newborn Screening: Recommended Uniform Screening Panel (RUSP)
Yes
Clinical Trials
For specific details on clinical trials visit the MitoAction Clinical Trial page or www.clinicaltrials.gov.
Resources
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 mito411@mitoaction.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
