Living with Carnitine palmitoyltransferase II deficiency
A condition that keeps the body from using certain fats for energy, with forms from newborn to adult.
Understanding Carnitine palmitoyltransferase II deficiency
There are three main types that differ in severity and when symptoms start: a newborn form, a severe infant form affecting the liver, heart, and muscles, and a muscle (myopathic) form. Newborns with the first form can have breathing failure, liver failure, weakened heart muscle, and an irregular heartbeat.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble exercising (exercise intolerance)
- Muscle pain with exercise
- Muscle aches
- Muscle weakness
- Muscle disease (myopathy)
- Red-brown urine
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
United Mitochondrial Disease Foundation, MitoAction and Muscular Dystrophy Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, MitoAction, Muscular Dystrophy Association
- 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
GARD says changes in genes cause this condition. It is inherited in an autosomal recessive way, so a child inherits a changed copy of a gene from each parent.
Also known as: carnitine palmitoyltransferase 2 deficiency; carnitine palmitoyltransferase deficiency type 2; cpt ii deficiency; cpt-ii; cpt2; cpt2 - carnitine palmitoyltransferase ii deficiency
Patient organizations
- United Mitochondrial Disease FoundationCarnitine palmitoyltransferase II deficiency · United States
- MitoActionCarnitine palmitoyltransferase II deficiency · United States
- Muscular Dystrophy AssociationCarnitine palmitoyltransferase II deficiency · United States
- FOD (Fatty Oxidation Disorder) Family Support GroupCarnitine palmitoyltransferase II deficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Carnitine palmitoyltransferase II deficiency.
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