Living with Very long chain acyl-CoA dehydrogenase deficiency
An inherited condition in which the body can't turn certain fats into energy, especially when not eating.
Understanding Very long chain acyl-CoA dehydrogenase deficiency
Problems are most likely during fasting, illness, exercise, or very hot or cold weather. There are three forms, based on when signs begin: infancy, childhood, or adolescence and adulthood. They can involve low blood sugar, tiredness, muscle weakness, liver problems, heart problems, or muscle pain.
Signs & symptoms
GARD doesn't list a common-symptom list, but its summary describes these:
- Low energy (lethargy)
- Muscle weakness
- Low blood sugar (hypoglycemia)
- Enlarged liver
- Muscle pain
- Red or brown urine after muscle breakdown
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 ACADVL 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
VLCAD deficiency is caused by changes in the ACADVL gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: acadvld; acyl-coa dehydrogenase, very long-chain deficiency; very long chain acyl coa dehydrogenase deficiency (lcad); very long chain acyl-coenzyme a dehydrogenase deficiency; very long-chain acyl-coa dehydrogenase deficiency; very long-chain acyl-coenzyme a dehydrogenase deficiency
Patient organizations
- United Mitochondrial Disease FoundationVery long chain acyl-CoA dehydrogenase deficiency · United States
- MitoActionVery long chain acyl-CoA dehydrogenase deficiency · United States
- FOD (Fatty Oxidation Disorder) Family Support GroupVery long chain acyl-CoA dehydrogenase deficiency · United States
- Maddie’s Spark FoundationVery long chain acyl-CoA dehydrogenase deficiency · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Very long chain acyl-CoA dehydrogenase deficiency.
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