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beta-hydroxyisovaleric aciduria |
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beta-hydroxyisovaleric aciduria, an inherited metabolic disease caused by a deficiency of an enzyme needed to metabolize the amino acid leucine. The condition results in an accumulation of leucine in the tissues, causing maple sugar odor in the urine, ketoacidosis, retardation, and muscle atrophy. See also maple syrup urine disease. How to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit webmaster's page for free fun content. |
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