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Methylmalonic Acidemia (MMA)

is a genetic disorder caused by a deficiency in the methylmalonyl-CoA mutase (MCM) enzyme.

Patients are prescribed a protein restricted diet to prevent elevated levels methylmalonyl CoA.

This App is designed to support families and children with MMA on protein restricted diets.
What is MMA?
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Methylmalonic Acidemia (MMA) is a genetic disorder caused by a deficiency in the methylmalonyl-CoA mutase (MCM) enzyme. Read more on MMA via this link.
With the help of Vitamin B12 (Vit B12) (also known as Cobalamin), MCM is responsible for the break down of the amino acids: isoleucine (Ile), valine (Val), methionine (Met) and threonine (Thr).
Ile, Val, Met and Thr are important amino acids that we need to eat from protein in foods. Protein is important for growth in children and health maintenance in adults.
Decreased MCM enzyme activity results in high levels of methylmalonyl CoA.
Depending on the severity of the disorder, symptoms may appear at birth or in early infancy. The MMA symptoms include (but are not limited to): decreased muscle tone, failure to thrive, anorexia, and an enlarged liver.
Long term symptoms of this disorder may include kidney disease, inflammation of the pancreas and feeding problems.
Why a diet?
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Patients are prescribed a protein restricted diet to prevent elevated levels methylmalonyl CoA.
People living with MMA are prescribed their daily protein restriction by their doctor or dietitian. Patients also frequently restrict their Ile, Val, Met and Thr intake. These daily goals often need to be changed based on each person’s nutritional needs and age requirements.
Since nutrition labels on foods do not list Ile, Val, Met and Thr content of foods, it is very difficult for families to track their daily dietary intake.
We hope this App makes daily protein and amino acids counting and meal planning easier for people following low protein diets.
For whom?
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This App is designed to support families and children with MMA on protein restricted diets.
This App is not a substitute for the health care provided by your medical team!