What is methylmalonic acidemia (MMA)?
Methylmalonic acidemia (MMA) is a rare, 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 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 effects depend on which gene is mutated and the severity of the mutation, but long-term complications can include feeding problems, growth delay, intellectual disability, chronic kidney disease and pancreatitis. Affected infants can experience vomiting, dehydration, weak muscle tone, developmental delay, lethargy, an enlarged liver, and failure to gain weight and thrive. Without treatment, this disorder can cause seizures and stroke and lead to coma and death in some cases.
RhiaPharmaceutical is working with Selecta Biosciences to study 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 Institutes of Health Medline Plus website 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.
Clinical Trials
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 RhiaPharmaceutical.
