Methylmalonic Acidemia (Mma) Family Fact Sheet

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METHYLMALONIC ACIDEMIA (MMA) FAMILY FACT SHEET What is a positive newborn screen? What problems can MMA cause? Newborn screening is done on tiny samples of blood MMA is different for each child. Some children with taken from your baby’s heel 24 to 36 hours after birth. MMA have few health problems, while other children The blood is tested for rare, hidden disorders that may may have very serious complications. affect your baby’s health and development. The newborn screen suggests your baby might have a If MMA is not treated, a child might develop: disorder called MMA. • Sleepiness • Feeding problems A positive newborn screen does not mean your • Muscle weakness baby has MMA, but it does mean your baby • Seizures needs more testing to know for sure. • Stroke • Poor growth You will be notified by your primary care provider or • Kidney disease the newborn screening program to arrange for • Brain damage additional testing. It is very important to follow the doctor’s instructions What is MMA? for testing and treatment. MMA affects an enzyme needed to break down certain What is the treatment for MMA? proteins and fats in the food we eat, so they can be MMA can be treated. Treatment is life-long and can used for energy and growth. There are different kinds include: of MMA, depending on which enzyme is missing or not • Low protein diet – a dietician will help you working properly. set up the best diet for your child. • Medications to help the body make A person with MMA doesn’t have enough enzyme to energy. break down protein or fats, so harmful toxins can build • Vitamin B12. up in the body. Children with MMA should see their regular doctor, a MMA is a genetic disorder that is passed on (inherited) doctor who specializes in MMA, and a dietician. from parents to a child. The mother and father of an affected child carry a gene change that can cause Prompt and careful treatment helps children with MMA. Parents usually do not have signs or symptoms, MMA live the healthiest lives possible. or even know they carry the gene change. Michigan Resources and Support Michigan Newborn Screening Children’s Hospital of Michigan Metabolic Clinic Nurse Consultant Toll-free: 1-866-442-4662 Toll-free: 1-866-673-9939 [email protected] Children’s Special Health Care Services Toll-free: 1-800-359-3722 Michigan Newborn Screening Program Phone 1-866-673-9939 www.michigan.gov/newbornscreening (Based on and printed with permission from Minnesota Newborn Screening).

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