Our daughter Callaway requires specialized formula every single day to stay alive!! While our insurance covers a portion of the formula, it does not cover all of it and each month we must get on the phone with our insuranceRead more
Methylmalonic acidemia (methylmalonyl-CoA mutase)
Methylmalonic acidemia (MMA) is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly. The effects of methylmalonic acidemia, which usually appear in early infancy, vary from mild to life-threatening. Affected infants can experience vomiting, dehydration, weak muscle tone (hypotonia), developmental delay, excessive tiredness (lethargy), an enlarged liver (hepatomegaly), and failure to gain weight and grow at the expected rate (failure to thrive). Long-term complications can include feeding problems, intellectual disability, chronic kidney disease, and inflammation of the pancreas (pancreatitis). Without treatment, this disorder can lead to coma and death in some cases.