Isovaleric acidemia

Isovaleric acidemia: Description, Causes and Risk Factors:An inborn error of leucine metabolism characterized by psychomotor retardation, a specific odor reminiscent of sweaty feet, vomiting, acidosis, and coma; associated with excessive production of isovaleric acid upon protein ingestion or during infectious episodes and is due to a deficiency of isovaleryl-CoA dehydrogenase; severe metabolic acidosis results from the large quantities of acid formed. Autosomal recessive inheritance; two forms are known: 1) the acute neonatal form with fulminant metabolic acidosis and rapid death, and 2) the chronic form characterized by intermittent episodes of severe ketoacidosis.Isovaleric acidemiaIsovaleric acidemia is a rare disorder in which the body is unable to process certain proteins properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems.Normally, the body breaks down proteins from food into smaller parts called amino acids. Amino acids can be further processed to provide energy for growth and development. People with isovaleric acidemia have inadequate levels of an enzyme that helps break down a particular amino acid called leucine.Mutations in the IVD gene cause isovaleric acidemia. The enzyme has been mapped to chromosome 15q14-q15. The IVD gene provides instructions for making an enzyme that plays an essential role in breaking down proteins from the diet. Specifically, this enzyme helps process the amino acid leucine, which is part of many proteins. If a mutation in the IVD gene reduces or eliminates the activity of this enzyme, the body is unable to break down leucine properly. As a result, an organic acid called isovaleric acid and related compounds build up to harmful levels in the body. This buildup damages the brain and nervous system, causing serious health problems.Health problems related to isovaleric acidemia range from very mild to life-threatening. In severe cases, the features of isovaleric acidemia become apparent within a few days after birth.About 1 in every 500,000 babies born has isovaleric academia.Symptoms:The initial symptoms include poor feeding, vomiting, seizures, and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including seizures, coma, and possibly death. A characteristic sign of isovaleric acidemia is a distinctive odor of sweaty feet during acute illness. This odor is caused by the buildup of a compound called isovaleric acid in affected individuals.In other cases, the signs and symptoms of isovaleric acidemia appear during childhood and may come and go over time. Children with this condition may fail to gain weight and grow at the expected rate (failure to thrive) and often have delayed development. In these children, episodes of more serious health problems can be triggered by prolonged periods without food (fasting), infections, or eating an increased amount of protein-rich foods.Diagnosis:During crises, the odor of sweaty feet is characteristic. Elevation of isovaleric acid, isovaleryglycine, and 3-hydroxyisovaleric acid are detected by urine organic acids studies. Newborn screening by "tandem mass spectrometry" shows typical elevation of isovaleryl-carnitine. Diagnosis is confirmed by enzyme analysis in cultured skin fibroblasts or leukocytes; prenatal diagnosis is available.Laboratory tests shows ketoacidosis, hyperammonemia, elevated liver enzymes, neutropenia, thrombocytopenia, anemia, low-free carnitine, and elevated acyl-carnitines in blood and urine. Hyperglycemia can be present with massive ketosis and can be misdiagnosed as diabetes mellitus.Treatment:Dietary restriction of protein intake is necessary, and use of low leucine medical food is helpful. L-carnitine at 100-300 mg/kg/day orally are given. Aggressive therapy of infection and catabolic events includes hemodialysis for overwhelming acidosis or coma.NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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