ACT sheets were developed by experts in collaboration with the American College of Medical Genetics.Īn Algorithm flowchart is available for this condition for determining the final diagnosis in an infant with a positive newborn screening result.
Methylmalonic acidemia can be isolated or may occur along with another condition called homocystinuria.Īn ACTion (ACT) sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive newborn screening result. Long-term complications can include growth delay, intellectual disability, kidney disease, and pancreatitis. Some subtypes of methylmalonic acidemia respond to vitamin B12. Treatment includes aggressive management of decompensation events, a low-protein diet, certain medications, antibiotics and, in some cases, liver and kidney transplantation. Methylmalonic acidemia is caused by changes in several different genes and is inherited in an autosomal recessive fashion. These can occur at different ages and can range from mild to severe. Symptoms of a decompensation event include poor feeding, vomiting, trouble breathing, and lack of energy (lethargy). This leads to a build-up of toxic substances and bouts of serious illness called decompensation events or metabolic crises. Listen Methylmalonic acidemia refers to a group of inherited conditions in which the body can’t breakdown certain parts of proteins and fats.