What are the symptoms of methylmalonic acidemia?

Symptoms may include lethargy, failure to thrive, recurrent vomiting, acidosis, dehydration, respiratory distress, diminished muscle tone, developmental retardation, seizures and/or an enlarged liver. Laboratory findings include an abnormally high amount of methylmalonic acid in the blood and urine.

What causes methylmalonic acidemia?

Mutations in the MMUT, MMAA, MMAB, MMADHC, and MCEE genes cause methylmalonic acidemia. The long term effects of methylmalonic acidemia depend on which gene is mutated and the severity of the mutation.

Is methylmalonic acidemia fatal?

Methylmalonic acidemia stems from several genotypes, all forms of the disorder usually diagnosed in the early neonatal period, presenting progressive encephalopathy, and secondary hyperammonemia. The disorder can result in death if undiagnosed or left untreated.

Is there a cure for methylmalonic acidemia?

Long-Term Treatments Liver transplant is also an option for some people with MMA. It doesn’t cure the disease, but it can help a person experience less frequent and less severe decompensations. 25 Kidney transplant might also be needed for people with severe kidney disease.

What does methylmalonic acidemia do to the body?

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.”

What kind of metabolic disorder is methylmalonic aciduria?

Methylmalonic acidemia. Methylmalonic acidemia (MMA), also called methylmalonic aciduria, is an autosomal recessive metabolic disorder that disrupts normal amino acid metabolism. It is a classical type of organic acidemia.

Who is the best radiologist for methylmalonic acidemia?

Rony Kampalath, MD, is a board-certified diagnostic radiologist specializing in imaging of the abdomen. Methylmalonic acidemia (MMA) is a rare and serious genetic disorder that affects multiple body systems.

Can a child with methylmalonic acidemia die before birth?

This means the defective gene must be passed onto the child from both parents. A newborn with this rare condition may die before it is ever diagnosed. Methylmalonic acidemia affects boys and girls equally. Babies may appear normal at birth, but develop symptoms once they start eating more protein, which can cause the condition to get worse.