Living with Mitochondrial trifunctional protein deficiency
A rare condition in which the body cannot turn certain fats into energy, especially during fasting, affecting the heart, liver, and muscles.
Understanding Mitochondrial trifunctional protein deficiency
Signs may begin in infancy or later. In infancy they include feeding difficulties, low energy, low blood sugar, low muscle tone, and liver problems. Infants are also at high risk for serious heart problems and breathing difficulties. After infancy, signs can include low muscle tone, muscle pain, muscle breakdown, and loss of feeling in the arms and legs. Problems can be triggered by fasting or by illnesses such as viral infections.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone and muscle weakness
- Feeding difficulties in infancy
- Heart muscle disease (cardiomyopathy)
- Liver problems
- Muscle breakdown (rhabdomyolysis)
- Nerve damage in the arms and legs (peripheral neuropathy)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and heart and blood vessel specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Children's Cardiomyopathy Foundation, United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: Children's Cardiomyopathy Foundation, United Mitochondrial Disease Foundation, MitoAction
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with FOD (Fatty Oxidation Disorder) Family Support Group and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes (also called variants) cause this condition. GARD lists autosomal recessive and mitochondrial inheritance but does not name a gene in this record.
Also known as: human trifunctional protein deficiency; tfp deficiency; tfpd; trifunctional enzyme deficiency; trifunctional protein deficiency
Patient organizations
- FOD (Fatty Oxidation Disorder) Family Support GroupMitochondrial trifunctional protein deficiency · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Mitochondrial trifunctional protein deficiency.
Explore research for Mitochondrial trifunctional protein deficiency
Explore actively recruiting Mitochondrial trifunctional protein deficiency studies with HealthSpark.
Find actively recruiting studies for Mitochondrial trifunctional protein deficiency with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Mitochondrial trifunctional protein deficiency studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Mitochondrial trifunctional protein deficiency
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Mitochondrial trifunctional protein deficiency experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.