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3-Hydroxyisobutyric aciduria


Other Names for this Disease
  • Disorder of valine metabolism
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Overview

3-Hydroxyisobutyric aciduria is a rare metabolic condition in which the body is unable to breakdown certain amino acids (the building blocks of protein). This leads to a toxic buildup of particular acids known as organic acids in the blood (organic acidemia), tissues and urine (organic aciduria). Signs and symptoms of 3-hydroxyisobutyric aciduria include developmental delay, characteristic facial features and brain abnormalities. The exact underlying cause is not well understood; however, researchers believe some cases are caused by changes (mutations) in the ALDH6A1 gene and inherited in an autosomal recessive manner. Because it is so rare, there is limited evidence to support the effectiveness of treatment, but a protein-restricted diet and carnitine supplementation have been tried with varying degrees of success.[1][2][3][4]
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.
  2. Song X, Anderson V, Guzman M, Rao C. Neuropathology of 3-hydroxyisobutyric aciduria, an autopsy case report. Can J Neurol Sci. July 2009; 36(4):483-486.
  3. Loupatty FJ, van der Steen A, Ijlst L, Ruiter JP, Ofman R, Baumgartner MR, Ballhausen D, Yamaguchi S, Duran M, Wanders RJ. Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria. Mol Genet Metab. March 2006; 87(3):243-248.
  4. Marcadier JL, Smith AM, Pohl D, Schwartzentruber J, Al-Dirbashi OY; FORGE Canada Consortium, Majewski J, Ferdinandusse S, Wanders RJ, Bulman DE, Boycott KM, Chakraborty P, Geraghty MT. Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria. Orphanet J Rare Dis. July 2013; 8:98.
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Basic Information

  • The Organic Acidemia Association has an information page on organic acidemias. Click on Organic Acidemia Association to view the information page.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss 3-Hydroxyisobutyric aciduria. Click on the link to view a sample search on this topic.
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.