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2-methyl-3-hydroxybutyric aciduria

Other Names for this Disease
  • 17 beta-hydroxysteroid dehydrogenase type 10 deficiency
  • 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
  • 2M3HBA
  • 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency
  • 3H2MBD deficiency
More Names
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2-methyl-3-hydroxybutyric aciduria is an inherited disorder in which the body cannot effectively process the amino acid isoleucine. Signs and symptoms of this condition usually develop in infancy or early childhood and include metabolic acidosis, hypoglycemia, hypotonia, seizures, movement problems, retinal degeneration, and hearing loss. Affected males have severe neurodegeneration with loss of developmental milestones, whereas females have mild to moderate developmental delay. 2-methyl-3-hydroxybutyric aciduria is caused by mutations in the HSD17B10 gene; it has an X-linked dominant pattern of inheritance.[1][2]
Last updated: 3/24/2010


  1. 17ß-hydroxysteroid dehydrogenase type 10 deficiency. Genetics Home Reference. October 2009; Accessed 3/24/2010.
  2. 2M3HBA - 2-Methyl-3-hydroxybutyric aciduria. Newborn Screening Coding and Terminology Guide. December 19, 2008; Accessed 3/24/2010.
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Basic Information

  • Genetics Home Reference (GHR) contains information on 2-methyl-3-hydroxybutyric aciduria. This website is maintained by the National Library of Medicine.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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.