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Diseases

Genetic and Rare Diseases Information Center (GARD)

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3-Hydroxyisobutyric aciduria


Other Names for this Disease
  • Disorder of valine metabolism
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Treatment

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How might 3-hydroxyisobutyric aciduria be treated?

There is no cure for 3-hydroxyisobutyric aciduria. Because it is so rare, there is limited evidence to support the effectiveness of treatment. However, affected people have been treated with a protein-restricted diet and carnitine supplementation with varying degrees of success.[1]
Last updated: 1/28/2015

References
  1. Sass JO, Walter M, Shield JP, Atherton AM, Garg U, Scott D, Woods CG, Smith LD. 3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase. J Inherit Metab Dis. 2012 May;35(3):437-42. May 2012; 35(3):437-442.


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Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Clinical Trials & Research for this Disease

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
Other Names for this Disease
  • Disorder of valine metabolism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.