2-Methyl-3-hydroxybutyric acidemia (2M3HBA) - Diseases and Conditions Identified in Children

2-Methyl-3-hydroxybutyric acidemia (2M3HBA)


2-Methyl-3-hydroxybutyric acidemia (2M3HBA) is an inborn error of metabolism, an inherited condition in which an enzyme, 2-methyl-3-hydroxybutyryl-CoA dehydrogenase, is either missing or not working well. In 2M3HBA the body is unable to properly break down certain fats and also the amino acid (part of protein) known as isoleucine. 2M3HBA is considered an organic acid condition because it can lead to a harmful amount of certain organic acids and toxins in the body. Symptoms can vary and may include changes in muscle tone, uncontrollable movements, developmental delay, loss of developmental milestones, vision problems, hearing loss, seizures, and/or other potential signs and symptoms. Males are generally more seriously affected than females. Support groups are available to help connect families living with this condition with others who have experience or expertise with this or similar conditions.

To learn more about 2-Methyl-3-hydroxybutyric acidemia, visit Baby's First Test: 2-methyl-3-hydroxybutyric acidemia. A listing of contact information for Minnesota inborn errors of metabolism medical specialty providers/clinics serving children affected with or undergoing evaluation for conditions that can be detected through Minnesota Newborn Screening is available upon request.