Living with Carnitine acylcarnitine translocase deficiency
A condition that keeps the body from using certain fats for energy, especially when going without food.
Understanding Carnitine acylcarnitine translocase deficiency
Symptoms usually begin soon after birth. They may include breathing problems, seizures, and an irregular heartbeat. People usually have low blood sugar (hypoglycemia) and low levels of ketones, which the body makes when it breaks down fats. Together this is called hypoketotic hypoglycemia.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Irregular heartbeat (arrhythmia)
- Weakened heart muscle (cardiomyopathy)
- Enlarged liver
- Muscle breakdown (rhabdomyolysis)
- Unusual sleepiness (lethargy) and irritability
- Delayed development
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 SLC25A20 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, MitoAction and Children's Cardiomyopathy Foundation 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, MitoAction, Children's Cardiomyopathy Foundation
- 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
Changes in the SLC25A20 gene cause this condition. It is inherited in an autosomal recessive way, so a child inherits a changed copy of the gene from each parent.
Also known as: cact deficiency; cactd; carnitine-acylcarnitine translocase deficiency
Patient organizations
- United Mitochondrial Disease FoundationCarnitine acylcarnitine translocase deficiency · United States
- MitoActionCarnitine acylcarnitine translocase deficiency · United States
- FOD (Fatty Oxidation Disorder) Family Support GroupCarnitine acylcarnitine translocase deficiency · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Carnitine acylcarnitine translocase deficiency.
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