Methylmalonic acidemia homocystinuria disorders (MMA Cbl C, D, F) - Diseases and Conditions Identified in Children

Methylmalonic Acidemia with Homocystinuria (MMA Cbl C, D, F)


Methylmalonic acidemia with homocystinuria (MMA Cbl C, D, F) are inborn errors of metabolism, inherited conditions with different genetic causes. In these conditions, the body has difficulty changing the vitamin B12 into a form that can be used. Methylmalonic acidemia with homocystinuria are considered organic acid conditions because they can lead to the build-up of harmful amounts of organic acids and toxins in the body. Symptoms of these conditions can vary and may include feeding and growth problems, extreme tiredness/lethargy, infections, low muscle tone (hypotonia), developmental delay, problems with muscle control during movement (ataxia), seizures, vision problems and/or other potential signs and symptoms. Methylmalonic acidemia with homocystinuria can be life-threatening. However, early detection and prompt and ongoing management can benefit children living with one of these conditions. Support groups are available to help connect families living with one of these conditions with others who have experience or expertise with organic acid conditions.

To learn more about Methylmalonic acidemia with homocystinuria, visit Baby's First Test: about Methylmalonic acidemia with homocystinuria and Screening, Technology, and Research in Genetics (STAR-G): Methylmalonic acidemia with homocystinuria. 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.