Living with Isovaleryl-CoA dehydrogenase deficiency
An inherited metabolic condition in which the body cannot break down part of protein properly, causing symptoms from very mild to serious.
Understanding Isovaleryl-CoA dehydrogenase deficiency
Without enough of a key enzyme, acids build up in the blood and urine and can cause health problems. In severe cases, signs start days after birth, with poor feeding, vomiting, seizures, and low energy. Other people first have symptoms in childhood that come and go, with slow growth and delayed development. Episodes can be triggered by long periods without food, infections, or lots of protein. During illness there may be a sweaty-feet odor.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor feeding and vomiting
- Low energy (lethargy)
- Seizures
- Slow weight gain (failure to thrive)
- Delayed development
- Low muscle tone
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 IVD are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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
- 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 IVD gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: isovaleric acid coa dehydrogenase deficiency; isovaleric acid-coa dehydrogenase deficiency; isovaleric acidemia; isovaleric aciduria; isovalericacidemia; isovaleryl-coenzyme a dehydrogenase deficiency
Patient organizations
- Organic Acidemia AssociationIsovaleryl-CoA dehydrogenase deficiency · United States
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