What are the symptoms of methylmalonic acidemia?
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.
Is methylmalonic acidemia fatal?
The disease is most often diagnosed in the first year of life. It is an autosomal recessive disorder. 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.
How is methylmalonic acidemia diagnosed?
a) Patients with very high concentrations of methylmalonic acid in urine, but normal homocysteine, have mutations in at least one of the MUT (mut-, mut 0), cblB, cblA and cblD (var 2) subtypes. MMA subtypes are diagnosed by enzyme assay analysis and/or molecular studies.
How long do people with methylmalonic acidemia live?
The prognosis of MMA is varied and fluid. Depending on severity, life-expectancy and quality-of-life range from days to years. Overall mortality for isolated MMA has been reported at 50% with a median age of death of 2 years [1].
Is methylmalonic acidemia common?
The most common form of the condition, called methylmalonic acidemia with homocystinuria, cblC type, is estimated to affect 1 in 200,000 newborns worldwide. Studies indicate that this form of the condition may be even more common in particular populations.
Is MMA curable?
“MMA is very rare. There is no cure but the doctors are getting better at managing it. Previously, there was little knowledge in terms of management, so there aren’t very many old people with it.
Is there a cure for MMA?
Long-Term Treatments 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.
How is methylmalonic acidemia treatment?
Methylmalonic acidemia is treated primarily with a low-protein, high-calorie diet, certain medications, antibiotics and in some cases, organ transplantation. Medication treatment consists cobalamin (vitamin B12) given as an injection, carnitine, and antibiotics.
What is MMA in a child?
Methylmalonic acidemia (MMA) is an inherited condition caused by a faulty gene. Children with MMA lack a protein that the body needs to break down fats and cholesterol inside cells. As a result, these substances build up in cells, causing damage to the brain, liver, kidneys, and other organs that gets worse over time.