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MitoAction

MitoAction

Support, Education, Outreach and Advocacy for Children and Adults Living with Mitochondrial Disease

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Carnitine Deficiency

Nov 17, 2022

  • General
  • Frequency
  • Diagnosis
  • Clinical Trials
  • Resources

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

  • Primary carnitine deficiency – National Institutes of Health

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

Upcoming
Events

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Sep 17
September 17 @ 8:00 am - September 24 @ 5:00 pm

Awareness Week

Sep 24
5:00 pm - 9:00 pm

Energy Walk – Boston

Sep 27
8:00 pm - 9:00 pm Event Series

Wondering Wednesdays: Ask the Genetic Counselor

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Expert
Series

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Upcoming Presentations

Nov 1
7:00 pm - 8:00 pm

Expert Series: LCHADD Retinopathy Update: Moving Toward a Treatment

Nov 3
12:00 pm - 1:00 pm

Expert Series: Immune Cell Function in Mitochondrial Disease

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Last Presentation

Expert Series: At the crossroad of mitochondrial disease and mitochondrial dysfunction
Presented July 25, 2023

P.O. Box 310
Novi, MI 48376
(888) 648-6228
info@mitoaction.org

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