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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