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.

Who does methylmalonic acidemia affect?

Parents are called “carriers” because they carry one copy of the altered gene but do not show signs and symptoms of the disorder. Both boys and girls are equally affected. This group of conditions is found in people of all racial and ethnic backgrounds.

What is the defective process in methylmalonic acidemia?

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.”

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.

What causes MMA disease?

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.

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 MMA a urea cycle disorder?

Hyperammonemia that is caused by PA or MMA is called secondary hyperammonemia since the enzyme deficiencies that cause the disorders are not part of the urea cycle.

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 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].

What causes MMA?

What is medical MMA?

What is a methylmalonic acid (MMA) test? This test measures the amount of methylmalonic acid (MMA) in your blood or urine. MMA is a substance made in small amounts during metabolism. Metabolism is the process of how your body changes food into energy. Vitamin B12 plays an important role in metabolism.

Can MMA be treated?

‘ Two types of MMA that often can be treated with vitamin B12 are Cobalamin A (CblA) deficiency and Cobalamin B (CblB) deficiency. There are other types of MMA which cannot be treated with vitamin B12. These types are called ‘vitamin B12 non-responsive.

What is methylmalonic acidemia?

Methylmalonic acidemia refers to a group of inherited conditions in which the body can’t breakdown certain parts of proteins and fats. This leads to a build-up of toxic substances and bouts of serious illness called decompensation events or metabolic crises.

Can methylmalonic acidemia (cobalamin disorders) affect the MUT enzyme?

The mut enzyme uses vitamin B-12 to help digest certain proteins, lipids, and cholesterol to use or get rid of them. Methylmalonic acidemia (cobalamin disorders) is a type of methylmalonic acidemia that results when vitamin B-12 is not processed correctly, and so cannot help the mut enzyme work.

What are the chances of having a child with methylmalonic acidemia?

If two parents are carriers of a nonworking copy of the MMAA or MMAB gene, they have a 1 in 4 chance of having a child with methylmalonic acidemia. Carriers for methylmalonic acidemia often do not know they are carriers before having a child with the condition.