What is the cause of methylmalonic acidemia?
The methylmalonic acidemias are organic acidemias caused by an enzymatic defect in the metabolism of four amino acids (methionine, threonine, isoleucine and valine). This results in an abnormally high level of acid in the blood (academia) and body tissues.
What happens methylmalonic acidemia?
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 methylmalonic acidemia rare?
Methylmalonic acidemia (MMA) is a rare and potentially fatal genetic disorder that affects metabolism and multiple body systems that affects about one in 100,000 infants. It’s caused by a genetic defect that prevents the body from properly processing certain proteins.
Is methylmalonic acidemia common?
Frequency. 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.
How is methylmalonic acidemia diagnosis?
Testing for methylmalonic acidemia is often done as part of a newborn screening exam. The United States Department of Health and Human Services recommends screening for this condition at birth because early detection and treatment is helpful. Tests that may be done to diagnose this condition include: Ammonia test.
How is methylmalonic acidemia diagnosed?
CT scan or MRI of the brain. Electrolyte levels. Genetic testing. Methylmalonic acid blood test.
How is methylmalonic acidemia detected?
MMA levels may be checked in blood or urine.
- During a blood test, a health care professional will take a blood sample from a vein in your arm, using a small needle.
- During a newborn screening, a health care provider will clean your baby’s heel with alcohol and poke the heel with a small needle.
How do you diagnose MMA?
How common is methylmalonic acidemia?
What does an MMA blood test show?
An MMA test is most often used to diagnose a vitamin B12 deficiency. This test is also used to diagnose methylmalonic acidemia, a rare genetic disorder. Symptoms of this disorder can range from mild to severe and may include vomiting, dehydration, developmental delays, and intellectual disability.
What is normal level of MMA?
Methylmalonic acid (MMA) levels are commonly used to evaluate for vitamin B-12 deficiency. The normal value for MMA is < 3.6 μmol/mmol creatinine.
What does high MMA levels indicate?
High MMA levels can be a sign of a vitamin B12 deficiency. Vitamin B12 deficiency can lead to serious health problems including anemia, a condition in which your blood has a lower than normal amount of red blood cells.
What does a MMA blood test show?
The methylmalonic acid (MMA) test may be used to help diagnose an early or mild vitamin B12 deficiency. It may be ordered by itself but generally with a homocysteine test as a follow-up to a vitamin B12 test result that is in the lower end of the normal range.
How do you treat high methylmalonic acid?
If you have high MMA but normal vitamin B12 levels, your doctor may decide to monitor your levels before recommending any interventions. If a vitamin B12 deficiency is confirmed, your doctor may recommend increasing your intake of foods rich in B12, taking B12 supplements, or receiving B12 injections.