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Methylmalonic Acidaemia (MMA)

Methylmalonic acidaemia is a genetically inherited disease in which the body is unable to process certain amino acids and fats correctly. This leads to the accumulation of a molecule called methylmalonyl-CoA and other by-products in the blood, which poison the body and brain. Methylmalonyl-CoA is a form of methylmalonic acid. Methylmalonic acidaemia (-aemia = in the blood) is also known as methylmalonic aciduria (-uria = in the urine) since high levels of methylmalonyl-CoA are also excreted in the urine. The disease shows many similarities to propionic acidaemia.

There are several variants of methylmalonic acidaemia, which range in severity from mild to life threatening. Seizures and progressive brain damage are common. Stroke, due to abnormal blood flow to the brain, and coma are two other serious complications. Untreated, the prognosis is poor.

The main amino acids involved are isoleucine, valine, threonine and methionine. Amino acids are the building blocks of proteins. After eating proteins, the body ‘metabolises’ or breaks them down into amino acids. Animal proteins include dairy products, meat, eggs and fish. Proteins are also found in plants including soy, legumes, grains and nuts. The body uses the amino acids to make its own proteins essential for life – for example enzymes; structural proteins in muscles, hair, skin, cells and cartilage; proteins that generate movement in muscles; or those involved in cell functioning or immune responses. In periods of fasting or illness, the body often switches to use its own proteins, and stored fats, to generate energy. Isoleucine, valine, threonine and methionine are essential amino acids meaning that the body cannot make them. Therefore, these amino acids come from ingested protein or from the breakdown of previously ingested and stored proteins.

HCP Information for Methylmalonic Acidaemia (MMA)

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