2-Methyl-3-Hydroxybutyric acidemia (2M3HBA) Deficiency

Overview

What is 2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA) deficiency?

2-methyl-3-hydroxybutyric acidemia (2M3HBA) deficiency is an inherited (genetic) disease that causes the body to not be able to break down a protein building block called isoleucine. Health problems with 2-methyl-3-hydroxybutyric acidemia (2M3HBA) deficiency are more severe in males than in females. In general males will have more health concerns than females because of how the gene is expressed. Males will generally start developing movement problems, seizures, and have general low muscle tone. Males often lose any motor milestones they develop while females generally only show development delays but no loss of milestones. Since there is progressive hearing and vision loss, taking steps to monitor and/or counteract the effects of the syndrome should be taken to better the quality of life. In addition, a special diet should be followed to help prevent some of the health problems but still get enough nutrition. Talk to your doctor about the best ways to monitor for hearing and vision loss and how to get connected with a metabolic specialist in your area.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/2-methyl-3-hydroxybutyric-acidemia/overview/17341 • DATE UPDATED: 2016-07-22

References

https://rarediseases.info.nih.gov/gard/10716/2-methyl-3-hydroxybutyric-aciduria/resources/1

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