What is the life expectancy of someone with methylmalonic acidemia?
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 curable?
There is no specific treatment for methylmalonic acidemia. Treatment is focused on managing the symptoms. Options include: Aggressive treatment of decompensation events.
Is methylmalonic acidemia a rare disease?
The Methylmalonic Acidemias occur at a rate of 1 in 50,000 to 1 in 100,000 live births.
What is MMA syndrome?
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.
Why is methylmalonic acid high in b12?
Normal Absorption of Vitamin B In humans, only two enzymatic reactions are known to be dependent on vitamin B12. In the first reaction, methylmalonic acid is converted to succinyl-CoA using vitamin B12 as a cofactor (Figure 1). Vitamin B12 deficiency, therefore, can lead to increased levels of serum methylmalonic acid.
What is the MMA gene?
Can homocystinuria be cured?
There is no cure for homocystinuria. About half of people with the disease respond to vitamin B6 (also known as pyridoxine). Those who do respond will need to take vitamin B6, B9 (folate), and B12 supplements for the rest of their lives. Those who do not respond to supplements will need to eat a low-methionine diet.
How common is methylmalonic acidemia?
Occasionally, specialized MMA testing may be ordered to help diagnose methylmalonic acidemia, a rare inherited metabolic disorder that occurs in about 1 in 50,000 to 100,000 people. Methylmalonic acid is a vital intermediate in the metabolism of fat and protein.
What is the dietary management of methylmalonic acidaemia?
Background The dietary management of methylmalonic acidaemia (MMA) is a low-protein diet providing sufficient energy to avoid catabolism and to limit production of methylmalonic acid. The goal is to achieve normal growth, good nutritional status and the maintenance of metabolic stability. Aim To des …
What is methylmalonic aciduria?
Methylmalonic acid is a vital intermediate in the metabolism of fat and protein. Abnormalities in methylmalonic acid metabolism lead to an inherited disorder called methylmalonic aciduria which makes the body unable to process certain proteins and lipids properly due to a block in the enzymatic conversion of methylmalonyl CoA to succinyl CoA.
What causes elevated MMA in methylmalonic acidaemia?
The concentration of plasma MMA is elevated primarily in patients affected with methylmalonicacidaemia and patients with a nutritional deficiency of Vitamin B12 and/or folate.Acquired causes of methylmalonic acidaemia are more common.