Methylmalonic acidemia (MMA)| Fatal Genetic Disorder | Autosomal Recessive Disorder
Methylmalonic acidemia or MMA is generally a rare and fatal genetic disorder which affects metabolism and body systems that usually affects about 1 in 100,000 infants. Generally, these defects are caused by a genetic defect which prevents the body from processing proteins from foods you eat. People who have this health condition are unable to produce an enzyme which is needed to break down. This health condition causes a buildup of acids and other toxic substances in the blood, urine and other cells which includes brain cells other than creating proteins from your foods. Usually, this disease will mostly be diagnosed within a few months of life. But, how this toxic substance buildup will affect the body and it can vary drastically from one person to another person. For some people, this health condition can cause severe long term problems like seizures, strokes, growth problems, developmental delays and frequent severe illness. This metabolic defect leads to buildup of methylmalo...