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.

Show More Content Like This

More Overview Content

Are there other names for 2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA) deficiency?

How many people have 2-Methyl-3-Hydroxybutyric acidemia (2M3HBA) deficiency?

What is the usual abbreviation for 2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA) deficiency?

Are there other names for 2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA) deficiency?

There are many different names for this 2-methyl-3-hydroxybutyric acidemia (2M3HBA) deficiency, including:

  • HSD17B10 Defenciency
  • 17-Beta-Hydroxysteriod Dehydrogenase X Deficiency
  • 2-Methyl-3-Hydroxybutryl-CoA Dehydrogenase Deficiency
  • MHBD Deficiency
  • HSD10
  • Hydroxyacyl-CoA dehydrogenase II
  • 3-Hydroxyacyl-CoA Dehydrogenase II
  • 17beta-hydroxysteroid dehydrogenase type 10 deficiency
  • 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
  • 2M3HBA
  • 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency
  • 3H2MBD deficiency
  • 17β-hydroxysteroid dehydrogenase type 10 deficiency
  • HSD10 deficiency
  • MHBD deficiency

When reading about this condition or talking to your doctor, make sure you understand what name is being used to refer to this condition.

How many people have 2-Methyl-3-Hydroxybutyric acidemia (2M3HBA) deficiency?

The prevalence of 2-methyl-3-hydroxybutyric acidemia (2M3HBA) deficiency is unknown. It is a very rare genetic disorder with a prevalence of less than 1 in 1 million people. To learn more about this disorder, visit Genetics Home Reference.

What is the usual abbreviation for 2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA) deficiency?

The usual abbreviations for 2-methyl-3-hydroxybutyric acidemia (2M3HBA) disease include:

  • HSD10 deficiency
  • 2M3HBA
  • MHBD deficiency

If you are reading an article or speaking with your doctor, be sure to clarify what the condition is being called since there are several names for the condition.

We use cookies to ensure that we give you the best experience on our website. By continuing to browse this site, you are agreeing to our use of cookies.

Continue Find out more about our use of cookies and similar technology

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me