What is methylmalonic acidemia (MMA)?
Methylmalonic acidemia (MMA) is an inherited, metabolic disorder in which the body is unable to break down certain proteins and fats (lipids). It is considered an organic acid condition because it can lead to a harmful amount of organic acids and toxins in the body. Babies may appear normal at birth, but develop symptoms once they start eating more protein, which can cause the condition to get worse.
MMA is a rare disease that occurs in an estimated 1 in 50,000 to 100,000 births and is caused by mutations in the MMUT, MMAA, MMAB, MMADHC, and MCEE genes. The long-term effects depend on which gene is mutated and the severity of the mutation.
Affected infants can experience vomiting, dehydration, weak muscle tone, developmental delay, lethargy, an enlarged liver, and failure to gain weight and thrive. Long-term complications can include feeding problems, intellectual disability, chronic kidney disease, and inflammation of the pancreas. Without treatment, this disorder can cause seizures and stroke and lead to coma and death in some cases.
AskBio is studying whether gene therapy may provide a curative treatment. Currently, MMA treatment is focused on life-long management of symptoms and can consist of cobalamin and carnitine supplements and a low-protein diet, which must be carefully controlled. Liver or kidney transplantation (or both) has also been shown to help some patients.
Visit the National Institute of Health Genetics Home Reference to learn more about MMA.
MMA Advocacy Partners
We work with patient advocacy groups, as well as leading researchers, scientists and medical professionals to advance new therapeutics for MMA into the clinic.
Many who can benefit from promising gene therapeutics face a significantly altered way of life. Many of these diseases are progressive. Thus, time is of the essence and the importance of every clinical trial has greater meaning to all of us at AskBio.