Living with Carnitine palmitoyl transferase 1A deficiency
A condition that keeps the body from using certain fats for energy, often showing up during illness or fasting.
Understanding Carnitine palmitoyl transferase 1A deficiency
Symptoms are often brought on by illness or periods without food. At those times, people usually have low blood sugar and low ketones (substances made when fat is broken down), called hypoketotic hypoglycemia. This may cause confusion and seizures. It starts in the newborn and infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Unusual sleepiness (lethargy)
- Fatigue
- Enlarged liver
- Liver failure
- Coma
- Changes in speech or behavior
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 genetic specialists.
- 3Consider genetic testing
Changes in CPT1A 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 and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Expert lists: 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 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 CPT1A 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: carnitine palmitoyl transferase ia deficiency; carnitine palmitoyltransferase 1a deficiency; carnitine palmitoyltransferase deficiency type 1; carnitine palmitoyltransferase i deficiency; carnitine palmitoyltransferase ia deficiency; carnitine palmitoyltransferase type i deficiency
Patient organizations
- United Mitochondrial Disease FoundationCarnitine palmitoyl transferase 1A deficiency · United States
- MitoActionCarnitine palmitoyl transferase 1A deficiency · United States
- FOD (Fatty Oxidation Disorder) Family Support GroupCarnitine palmitoyl transferase 1A deficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Carnitine palmitoyl transferase 1A deficiency.
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