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Back in 2012, the Minnesota Department of Health published a helpful fact sheet on methylmalonic acidemia (MMA). What I liked about it is that it’s very straightforward and to the point. It’s not a stuffy, hard-to-understand academic article (yay!) and it gets the job done of helping others understand MMA.

To make it even easier for you, I’d like to offer you some helpful nuggets of information about this rare, genetic disease found in newborns thanks to careful screening and testing.

Within 1-2 days after birth, newborns are tested and screened (from small blood samples) for a variety of conditions, illnesses, and rare diseases – in this case methylmalonic acidemia. Don’t be alarmed if your baby initially tests positive. Other conditions (some may not be serious) can cause a positive test result.

Remember: Stay calm and remember that your baby may not have MMA. Doctors will run additional tests to determine the positive response.

Wrap Your Head Around MMA Basics:

  • Methylmalonic acidemia is a genetic disease that a baby inherits from its biological parents
  • MMA targets enzymes and makes them ineffective in breaking down fats and proteins, which the body uses for energy and stamina
  • There are different types of MMA that vary in severity – some are so severe, that enzymes are entirely missing
  • People who have moderate to severe MMA can experience serious health problems and suffer a limited quality of life as a result of toxins building up in their bodies, unable to properly process fuel and energy
  • If a child does test positive, it is very important for their siblings to also be tested, as MMA is an inherited disease

Types of doctors needed for optimum care:

  • Specialist
  • Registered dietician
  • General practitioner

Note: It is imperative for babies and children diagnosed with methylmalonic acidemia to be monitored and treated by their healthcare team on a regular basis.


  • Although there is no cure, the great news is MMA can be treated with special drugs.
  • Treatments tend to be lifelong and may include Vitamin B-12.
  • Dietary intervention to adapt to a diet with low proteins can make a positive impact for the patient. You’ll need to consult with a licensed dietician.

If Left Untreated

Children with untreated methylmalonic acidemia may fail to thrive, and may develop:

  • Mental decline and retardation
  • Listlessness and sleepiness
  • Difficulty eating and swallowing
  • Seizures and strokes
  • Weakness

If you’d like to learn more, you may want to check out the Organic Acidemia Association or Baby’s First Test.

Alisha Stone

Alisha Stone

Alisha Stone has a BA in psychology and is dedicated to improving the lives of others living with chronic illnesses.

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