What Is Methylmalonic Acidemia?
What is methylmalonic acidemia? This is a birth defect that disrupts the metabolism of vitamin B12. The body cannot break down certain proteins and fats, resulting in an accumulation of methylmalonic acid in the blood.
The disease is usually diagnosed in the first year of life. Between 1 in 25,000 and 1 in 48,000 children are born with this condition. The symptoms are obvious from the first days of life.
What is methylmalonic acidemia and what are its causes?
The cause of methylmalonic acidemia sensitive to vitamin B12 is a defect in the synthesis of adenosylcobalamins caused by mutations in the genes MMAA (4q31.1-2), MMAB (12q24.1) and MMADHC (2q23.2).
Another cause is a complete or partial deficiency in the activity of the enzyme methylmalonyl CoA mutase. But in this case, the mutations appear in the MUT gene (6p21).
However, all methylmalonic acidemias are transmitted according to an autosomal recessive pattern from parents to children.
Symptoms of methylmalonic acidemia
In childhood
Babies
Sensitive to vitamin B12
Adulthood
Affected individuals are considered stable, but may be prone to acute metabolic decompensation. The cause of this type of methylmalonic acidemia has not been established.
Treatment of methylmalonic acidemia
Currently, diet is the main element of treatment for methylmalonic acidemia. The purpose of food treatment is to prevent the accumulation of substrates and metabolites associated with toxic levels.
The recommended treatments for children with methylmalonic acidemia are:
- L-carnitine. This substance, in addition to being safe and natural, helps the body to produce energy and eliminate waste.
- Oral antibiotics. These medicines can help reduce the amount of methylmalonic acid in the intestines.
- Vitamin B12 injections. Over 90% of CblA cases respond to this treatment. In addition, 40% of children with CblB methylmalonic acidemia get major benefits from this treatment.
Prevention methods
Specialists recommend a diet low in amino acids, with limited amounts of protein. The diet should contain mainly carbohydrates such as cereals, fruits, pasta and vegetables.
People suffering from this condition should avoid contact with people with contagious diseases, such as colds or flu, to avoid complications.
