2-Methylbutyrylglycinuria (also known as short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency, is an inborn error of metabolism, an inherited condition in which an enzyme in the body is either missing or not working well. The job of this enzyme, 2-methylbutyryl-CoA dehydrogenase, is to help break down the amino acid isoleucine (a part of protein). It is an organic acid condition because it can lead to the build-up of harmful amounts of organic acids and toxins in the body. Symptoms of the condition vary and some people with this condition have not experienced symptoms. Support groups are available to help connect families living with 2MBG with others who have experience or expertise with this condition.
For more information about 2-Methylbutyrylglycinuria, visit Screening, Technology, and Research in Genetics (STAR-G): 2-methylbutyryl CoA dehydrogenase deficiency. Please see Medically Prescribed Formula for information about medically prescribed formula and pharmacologic interventions for inborn errors of metabolism. 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.