Living with Deficiency of isobutyryl-CoA dehydrogenase
A condition in which the body has trouble breaking down the amino acid valine. Most people have no symptoms.
Understanding Deficiency of isobutyryl-CoA dehydrogenase
Most people with IBD deficiency have no signs or symptoms. When symptoms appear, they usually show early in life and last a short time. Because it is rare and often causes no symptoms, it is hard to know if health problems in affected people are caused by it.
Signs & symptoms
Most people have no symptoms. GARD's summary lists these possible signs:
- Low muscle tone (hypotonia)
- Developmental delays
- Slow growth
- Low red blood cell count (anemia)
- Seizures
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 and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in ACAD8 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
Children's Cardiomyopathy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: 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 Organic Acidemia Association 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 ACAD8 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: acad8 deficiency; acad8-gene related deficiency of isobutyryl-coenzyme a dehydrogenase; acyl-coa dehydrogenase family, member 8, deficiency of; deficiency of isobutyryl-coenzyme a dehydrogenase; ibd deficiency; isobutyric aciduria
Patient organizations
- Organic Acidemia AssociationDeficiency of isobutyryl-CoA dehydrogenase · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Deficiency of isobutyryl-CoA dehydrogenase.
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