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Methylmalonic Acidemia

Methylmalonic Acidemia (MMA) Family Fact Sheet

Date added to Michigan Newborn Screening: April 2005

What is a positive newborn screen?

Newborn screening is done on tiny samples of blood taken from your baby’s heel 24 to 36 hours after birth. The blood is tested for rare, hidden disorders that may affect your baby’s health and development. The newborn screen suggests your baby might have a disorder called MMA.

A positive newborn screen does not mean your baby has MMA, but it does mean your baby needs more testing to know for sure.

You will be notified by your primary care provider or the newborn screening program to arrange for additional testing.

 

What is MMA?

MMA affects an enzyme needed to break down certain proteins and fats in the food we eat, so they can be used for energy and growth. There are different kinds of MMA, depending on which enzyme is missing or not working properly.

A person with MMA doesn’t have enough enzyme to break down protein or fats, so harmful toxins can build up in the body.

MMA is a genetic disorder that is passed on (inherited) from parents to a child. The mother and father of an affected child carry a gene change that can cause MMA. Parents usually do not have signs or symptoms, or even know they carry the gene change.

 

What problems can MMA cause?

MMA is different for each child. Some children with MMA have few health problems, while other children may have very serious complications.

If MMA is not treated, a child might develop:

  • Sleepiness.
  • Feeding problems.
  • Muscle weakness.
  • Seizures.
  • Stroke.
  • Poor growth.
  • Kidney disease.
  • Brain damage.

It is very important to follow the doctor’s instructions for testing and treatment.

 

What is the treatment for MMA?

MMA can be treated. Treatment is life-long and can include:

  • Low protein diet – a dietitian will help you set up the best diet for your child.
  • Medications to help the body make energy.
  • Vitamin B12.

Children with MMA should see their regular doctor, a doctor who specializes in MMA, and a dietitian.

Prompt and careful treatment helps children with MMA live the healthiest lives possible.

 

 

Michigan Resources and Support

Michigan Newborn Screening Nurse
Consultant
Toll-free: 1-866-673-9939
Email: NewbornScreening@Michigan.gov

Michigan Metabolic Coordinating Center
C.S. Mott Children’s Hospital, Michigan
Medicine: 1-734-764-0579

Children’s Special Health Care Services
Toll-free: 1-800-359-3722

 

Download a printable version of the MMA fact sheet.