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Isovaleric Acidemia
Monday, 24 January 2005
Monday, 24 January 2005


Isovaleric Acidemia (IVA) is a rare, inherited condition caused by a missing or poorly functioning enzyme named isovaleryl-CoA dehydrogenase. This enzyme is important for the breakdown of protein in the body. During prolonged periods of fasting, protein from food and protein in the body’s muscles is broken down into amino acids, which are then changed into glucose. Isovaleric acid is made during the breakdown of an amino acid named leucine. In IVA, isovaleric acid accumulates in the brain because it cannot be changed into glucose. As a result the brain is damaged and this leads to learning problems, loss of motor skills and seizures.


IVA is estimated to occur in one out of every 50,000 children. Girls and boys of all races and ethnicities are affected equally.

Signs and Symptoms

Symptoms include poor feeding, vomiting, clumsiness, lethargy, seizures and coma. Symptoms are triggered by infections or by eating too much food with a lot of protein. A foul odor described as resembling sweaty feet, dirty socks, or cheese is commonly present. Children with IVA may become very sick during the first two weeks of life or have mild and repeated episodes of these symptoms throughout life.

Possible Causes

IVA is inherited in an autosomal recessive manner and the gene that makes this enzyme is located on chromosome number 15. In order to have this disorder both genes that make the IVA enzyme must have a change (mutation). The parents of an affected child are usually healthy, but each carries one copy of the mutated gene. Carriers are healthy because they have one normal copy of the IVA gene and this gene makes enough enzyme for the normal metabolism of protein. When both parents are carriers, there is a 25% chance of each of their children developing this disease. There is a 50% chance that each child will be a carrier. IVA deficiency is not contagious or preventable.


Blood and urine tests that are done when signs and symptoms are present will help make the diagnosis. DNA testing is also available. Expanded newborn screening, as offered in some states, can detect IVA in the first few days of life.


Treatment is aimed at limiting the intake of the amino acid leucine in the diet because it cannot be broken down when this enzyme is not functioning properly. Children with this disorder are fed special leucine-free formulas. This special diet must be followed for life. Oral carnitine and glycine supplements can help the child’s body grow and develop. Carnitine and glycine bind to isovaleric acid to form nontoxic products, which can then be excreted in the urine. Aspirin interferes with this and therefore, children with IVA should not take aspirin. Infections and fevers should be treated aggressively to prevent muscle breakdown. When the child is ill, dietary protein should be greatly reduced and replaced with carbohydrates. Also, carnitine doses may need to be increased.


Children with IVA can do well with early diagnosis and proper treatment. They can lead nearly normal lives as long as they follow the strict dietary requirements, consume the essential supplements, and take extra caution to avoid illness.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.


United Mitochondrial Disease Foundation Non-profit organization providing support groups, education, information about research studies, counseling, and family networking. Organic Acidemia Association Voluntary support group which represents children and adults with these disorders, their families and caregivers. CLIMB (Children Living with Inherited Metabolic Diseases) National organization providing information, news, financial support and networking. NIH/National Institute of Diabetes, Digestive and Kidney Diseases Endocrine Diseases Metabolic Diseases Branch National organization providing information, support, and newsletter. Fatty Oxidation Disorders (FOD) Family Support Group International coalition providing resources, education and networking. March of Dimes Birth Defects Foundation Non-profit organization providing support groups, education, information about research studies, counseling, and family networking. The Arc (a national organization on mental retardation) A national organization providing education, support and advocacy.

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References and Sources