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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Beta ketothiolase deficiency


Other Names for this Disease

  • 2-methyl-3-hydroxybutyricacidemia
  • 3-ketothiolase deficiency
  • 3-oxothiolase deficiency
  • Alpha-methylacetoaceticaciduria
  • Mitochondrial acetoacetyl-CoA Thiolase deficiency
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  • A young family has a 3 year old girl with this disease. The parents would like to have additional children but are afraid to have another affected baby. What are their options? Click here for answer

Other Names for this Disease
  • 2-methyl-3-hydroxybutyricacidemia
  • 3-ketothiolase deficiency
  • 3-oxothiolase deficiency
  • Alpha-methylacetoaceticaciduria
  • Mitochondrial acetoacetyl-CoA Thiolase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.