Living with Deficiency of butyryl-CoA dehydrogenase
An inherited condition that prevents the body from turning certain fats into energy, especially during fasting.
Understanding Deficiency of butyryl-CoA dehydrogenase
Symptoms may appear in infancy or early childhood. They can be triggered by fasting or illnesses such as viral infections. It is sometimes mistaken for Reye syndrome. Other features may include seizures, developmental delay, and a small head size.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone in infants (floppy infant)
- Poor weight gain (failure to thrive)
- Feeding difficulties
- Developmental delay
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.
- 3Consider genetic testing
Changes in ACADS 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
- Brain and nervous system specialists (neurologists); 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 ACADS gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: acads - short chain acyl-coenzyme a dehydrogenase deficiency; acads deficiency; acadsd; acyl-coa dehydrogenase, short-chain deficiency; acyl-coa dehydrogenase, short-chain, deficiency of; butyryl-coa dehydrogenase deficiency
Patient organizations
- United Mitochondrial Disease FoundationDeficiency of butyryl-CoA dehydrogenase · United States
- MitoActionDeficiency of butyryl-CoA dehydrogenase · United States
- FOD (Fatty Oxidation Disorder) Family Support GroupDeficiency of butyryl-CoA dehydrogenase · United States
- Save Babies Through Screening Foundation, IncDeficiency of butyryl-CoA dehydrogenase · United States
You are more than your diagnosis
Perspectives from people navigating life with Deficiency of butyryl-CoA dehydrogenase.
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