2-Methyl-3-hydroxybutyric acidemia (2M3HBA)
2-Methyl-3-hydroxybutyric acidemia (2M3HBA) is an inherited condition in which the body is unable to break down certain proteins. This condition may also affect the body’s ability to break down certain fatty acids and to regulate some activities of the nervous system. 2M3HBA is considered an organic acid condition because it can lead to a harmful amount of certain organic acids and toxins in the body. Males are generally more seriously affected than females. Young children may experience development delay or loss of developmental milestones. Early diagnosis and treatment are effective in improving the health of individuals affected by 2M3HBA.
This condition is also known as: HSD10 deficiency, 3H2MBD deficiency, 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency, hydroxyacyl-CoA dehydrogenase II deficiency, 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, MHBD deficiency.
To learn more about 2-Methyl-3-hydroxybutyric acidemia, visit Baby's First Test: 2-methyl-3-hydroxybutyric acidemia. Please see Medically Prescribed Formula for information about medically prescribed formula and pharmacologic interventions for inborn errors of metabolism. Visit Pediatric Metabolic Providers for a listing of medical specialists and clinic contact information.