Overview
Isobutyryl-CoA dehydrogenase deficiency (also called IBD deficiency or IBDD) is a rare inherited metabolic disorder. It affects the way the body breaks down a building block of protein called valine, which is one of the essential amino acids we get from food. When the enzyme isobutyryl-CoA dehydrogenase does not work properly, certain substances build up in the blood and urine that can be harmful over time. Many people with this condition are identified through newborn screening before they show any symptoms. Some individuals remain completely healthy throughout their lives and never develop problems, while others may experience symptoms such as low muscle tone, heart problems (particularly a condition called dilated cardiomyopathy where the heart becomes enlarged and weakened), low red blood cell counts (anemia), and low levels of carnitine, a substance the body needs to process fats for energy. Treatment usually involves dietary management to limit valine intake and carnitine supplements to restore normal levels. Because the condition can vary so much from person to person, close monitoring by a metabolic specialist is important. With early detection and proper management, many people with IBD deficiency do very well and lead normal lives.
Also known as:
Key symptoms:
Low muscle tone (floppy muscles)Enlarged or weakened heart (dilated cardiomyopathy)Low red blood cell count (anemia)Low carnitine levels in the bloodFatigue or low energyPoor feeding in infancySlow growth or failure to thriveDevelopmental delays in some casesAbnormal levels of certain metabolites in blood or urine
Clinical phenotype terms (11)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Isobutyryl-CoA dehydrogenase deficiency.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.Does my child actually need treatment, or just monitoring — and how will we decide?,How often should we check carnitine levels and heart function?,Does my child need to follow a special diet, and if so, how strict does it need to be?,What should I do if my child gets sick and cannot eat — is there an emergency protocol?,Are other family members at risk, and should siblings or parents be tested?,What signs or symptoms should prompt me to seek emergency care?,Are there any long-term risks I should be aware of as my child grows into adulthood?
Common questions about Isobutyryl-CoA dehydrogenase deficiency
What is Isobutyryl-CoA dehydrogenase deficiency?
Isobutyryl-CoA dehydrogenase deficiency (also called IBD deficiency or IBDD) is a rare inherited metabolic disorder. It affects the way the body breaks down a building block of protein called valine, which is one of the essential amino acids we get from food. When the enzyme isobutyryl-CoA dehydrogenase does not work properly, certain substances build up in the blood and urine that can be harmful over time. Many people with this condition are identified through newborn screening before they show any symptoms. Some individuals remain completely healthy throughout their lives and never develop
How is Isobutyryl-CoA dehydrogenase deficiency inherited?
Isobutyryl-CoA dehydrogenase deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Isobutyryl-CoA dehydrogenase deficiency typically begin?
Typical onset of Isobutyryl-CoA dehydrogenase deficiency is infantile. Age of onset can vary across affected individuals.