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Other Names for this Disease
- 17 beta-hydroxysteroid dehydrogenase type 10 deficiency
- 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
- 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency
- 3H2MBD deficiency
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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.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
Last updated: 3/24/2010
- 17ß-hydroxysteroid dehydrogenase type 10 deficiency. Genetics Home Reference. October 2009; http://ghr.nlm.nih.gov/condition=17betahydroxysteroiddehydrogenasetype10deficiency. Accessed 3/24/2010.
- 2M3HBA - 2-Methyl-3-hydroxybutyric aciduria. Newborn Screening Coding and Terminology Guide. December 19, 2008; http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/2M3HBA. Accessed 3/24/2010.
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- 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) database contains genetics resources that discuss 2-methyl-3-hydroxybutyric aciduria. Click on the link to go to OMIM and review these resources.
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