Living with Deficiency of 2-methylbutyryl-CoA dehydrogenase
A rare condition in which the body cannot process the amino acid isoleucine. Most people have no health problems.
Understanding Deficiency of 2-methylbutyryl-CoA dehydrogenase
Most cases are found by newborn screening. Most people have no health problems from it. A small percentage develop symptoms, which can start soon after birth or in childhood. It is unclear why some develop symptoms and others don't. Infections, fasting, or a lot of protein may trigger problems.
Signs & symptoms
Most people have no symptoms. For those who do, GARD's summary lists these early signs:
- Poor feeding
- Lack of energy (lethargy)
- Vomiting
- Irritability
- Poor growth
- Delayed motor skills like standing and walking
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 seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in ACADSB 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
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy 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 ACADSB gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: 2-methylbutyric aciduria; 2-methylbutyryl glycinuria; 2-methylbutyryl-coa dehydrogenase deficiency; 2-methylbutyryl-coenzyme a dehydrogenase deficiency disease; 2-methylbutyrylglycinuria; acadsb
Patient organizations
- Organic Acidemia AssociationDeficiency of 2-methylbutyryl-CoA dehydrogenase · United States
- FOD (Fatty Oxidation Disorder) Family Support GroupDeficiency of 2-methylbutyryl-CoA dehydrogenase · United States
- Save Babies Through Screening Foundation, IncDeficiency of 2-methylbutyryl-CoA dehydrogenase · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Deficiency of 2-methylbutyryl-CoA dehydrogenase.
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