What are the long-term consequences?
If not detected early and/or managed properly, MMA may result in:
- mental retardation
- physical delays
- possibly death
Newborns often suffer death if not detected early.
What is the treatment?
Treatment consists of a strictly controlled diet that restricts protein and/or the four offending amino acids (isoleucine, valine, methionine and threonine).
Since high MMA levels are toxic, the goal of treatment is to minimize these levels yet provide enough protein (from which MMA is produced) for normal growth and development.
Is there a cure for MMA at this time?
No. Researchers are currently studying the disease with the goal of finding additional treatments or a cure through gene and other therapies.
How often does MMA occur?
MMA is regarded as a rare disorder, occurring approximately 1 in 25,000 to 48,000 births.
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