What is Methylmalonic Acidemia (MMA) Screening?
Methylmalonic acidemia (MMA) is a rare genetic disorder that affects the body’s ability to break down certain amino acids and fats. It can lead to a buildup of methylmalonic acid in the blood, which can cause serious health problems if left untreated. MMA screening is a test to identify infants who may have this condition.
Why Methylmalonic Acidemia (MMA) Screening
is required?
Early diagnosis of MMA is crucial for preventing serious health complications. These complications can include:
- Developmental delays
- Seizures
- Liver problems
- Kidney problems
- Metabolic acidosis (a condition where the body’s pH is too acidic)
which are the method of Methylmalonic Acidemia (MMA) Screening?
MMA screening is typically performed as part of newborn screening programs. The test involves taking a blood sample from the newborn’s heel within the first few days of life. The blood sample is then analyzed for elevated levels of methylmalonic acid.
who should go for Methylmalonic Acidemia (MMA) Screening?
All newborns should undergo MMA screening as part of routine newborn care.
What are the results of Methylmalonic Acidemia (MMA) Screening?
All newborns should undergo MMA screening as part of routine newborn care.
What are the components of Methylmalonic Acidemia (MMA) Screening?
MMA screening typically involves measuring the level of methylmalonic acid in the blood. In some cases, additional tests may be performed to confirm the diagnosis, such as measuring the levels of other metabolites in the blood or urine.
