3-hydroxyisovaleric acid

3-hydroxyisovaleric acid

/3-hy·droxy·iso·va·ler·ic ac·id/ (-i″so-vah-ler´ik) a methylated form of isovaleric acid accumulated and excreted in the urine in some disorders of leucine catabolism.
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Isovaleric acidemia (IVA) [4] (OMIM #243500) is caused by a defect in leucine catabolism due to deficiency of isovaleryl-coenzyme A (CoA) dehydrogenase, leading to the accumulation of free isovaleric acid, 3-hydroxyisovaleric acid, N-isovalerylglycine, and isovalerylcarnitine (C5).
Deficiency of this enzyme results in accumulation of leucine catabolism byproducts, particularly isovaleryl carnitine, isovalerylglycine, 3-hydroxyisovaleric acid, and isovaleric acid itself.
One will find dramatic elevation of isovalerylglycine and 3-hydroxyisovaleric acid levels during an attack.
During remission the goal of therapy is to prevent acute attacks of isovaleric acidemia by minimizing the accumulation of isovaleric acid and 3-hydroxyisovaleric acid, as well as to prevent the depletion of carnitine stores.
Diagnosis of IVA is based on clinical symptoms and the presence of isovalerylglycine and 3-hydroxyisovaleric acid (13), with some of the above-mentioned metabolites also occurring to a greater or lesser extent (4).
3-Methylglutaconic aciduria (3MGA) type I (McKusick 250950) is biochemically characterized by increased excretion of 3-methylglutaconic acid, 3-methylglutaric acid, and 3-hydroxyisovaleric acid in urine.