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Genetic and Rare Diseases Information Center (GARD)

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2-methyl-3-hydroxybutyric aciduria

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Other Names for 2-methyl-3-hydroxybutyric aciduria

  • 17 beta-hydroxysteroid dehydrogenase type 10 deficiency
  • 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
  • 2M3HBA
  • 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency
  • 3H2MBD deficiency
  • HSD10 deficiency
  • Hydroxyacyl-CoA dehydrogenase II deficiency
  • MHBD deficiency