Living with Renal carnitine transport defect
A genetic condition, also called primary carnitine deficiency, in which the body can't use certain fats for energy, especially during fasting.
Understanding Renal carnitine transport defect
Carnitine is a natural substance that cells use to process fats and make energy. Signs usually appear in infancy or early childhood, and severity varies. Some people have no symptoms. Problems can be triggered by fasting or by illnesses such as viral infections. It is sometimes mistaken for Reye syndrome.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Brain dysfunction (encephalopathy) and confusion
- Seizures
- Muscle weakness and clumsiness
- Vomiting
- Enlarged liver
- Weakened, enlarged heart (cardiomyopathy)
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.
- 3Consider genetic testing
Changes in SLC22A5 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
United Mitochondrial Disease Foundation, Hypertrophic Cardiomyopathy Association 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: United Mitochondrial Disease Foundation, Hypertrophic Cardiomyopathy Association, 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 United Mitochondrial Disease Foundation 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
This condition is caused by changes in the SLC22A5 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: carnitine deficiency; carnitine deficiency, systemic; carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine; carnitine transporter defect; carnitine transporter deficiency; carnitine transporter, plasma-membrane, deficiency of
Patient organizations
- United Mitochondrial Disease FoundationRenal carnitine transport defect · United States
- Hypertrophic Cardiomyopathy AssociationRenal carnitine transport defect · United States
- MitoActionRenal carnitine transport defect · United States
- FOD (Fatty Oxidation Disorder) Family Support GroupRenal carnitine transport defect · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Renal carnitine transport defect.
Explore research for Renal carnitine transport defect
Explore actively recruiting Renal carnitine transport defect studies with HealthSpark.
Find actively recruiting studies for Renal carnitine transport defect 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 Renal carnitine transport defect 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 Renal carnitine transport defect
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 Renal carnitine transport defect 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.