Methylmalonic Acidemia —

What is it?

Methylmalonic acidemia is a disorder in which the body cannot break down certain proteins and fats. The result is a buildup of a substance called methylmalonic acid in the blood. This condition is passed down through families. It is one of several conditions called an “inborn error of metabolism.”

It is a condition which is passed down through families and one of several conditions called an inborn error of metabolism.

The side effects and symptoms of a decompensation event include poor feeding, vomiting trouble breathing, and lack of energy (lethargy). It can occur at different ages and can range from mild to severe. Methylmalonic acidemia is caused by changes in several inherited in an autosomal recessive fashion.

The treatment for this is primarily with a low-protein, high-calorie diet, certain medications, antibiotics, and in some cases organ transplantation. Medication treatment consists of (vitamin B12) given as an injection, carnitine, and antibiotics.

What is the prognosis with this disorder can result in death if undiagnosed or left untreated? It is estimated that the disorder has a frequency of 1 in 48,000 births, through the high mortality rate in diagnosed cases make exact determination difficult. Methylmalonic Acidemias are found with an equal frequency across ethnic boundaries.

The symptoms can include lethargy, failure to thrive, recurrent vomiting, acidosis, dehydration, respiratory distress, diminished muscle…