Abstract
Isovaleric acidemia was the organic acid disorder first described in 1966 by Tanaka and colleagues. Selective screening in Oman, Thailand, and Hong Kong demonstrated the presence of isovaleric acidemia in different populations around the world. The characteristic odor of isovaleric acid may alert the physician to the diagnosis. A first acute metabolic decompensation of isovaleric acidemia in an adult has been described, and the authors emphasized that internists and adult neurologists need to be aware of organic acidemias. Isovaleric acidemia is an autosomal recessive disease caused by deficiency of the mitochondrial enzyme isovaleryl-coenzyme A dehydrogenase. Analysis of organic acids at the time of acute attack reveals the presence of 4-hydroxyisovaleric acid, mesaconic acid, and methylsuccinic acid, as well as isovalerylglycine and 3-hydroxyisovaleric acid. Carnitine may become depleted in isovaleric acidemia. Patients tend to have low levels of free carnitine in plasma and increased losses of esterified carnitine in urine.
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