Methylmalonic Acidemia: Can Treatment Be Improved?

    April 2015 in “ Journal of Nutritional Therapeutics ”
    Kimberlee Michals‐Matalon, Rachel C. Lombardo, Kimberly Bilger, Nancy A. Ross, Kelly N. Z. Fuller, Debra Freedenberg, Reuben Matalon
    TLDR Looser dietary restrictions can improve growth and reduce illness in methylmalonic acidemia patients.
    The document discussed methylmalonic acidemia (MMA), a severe metabolic disorder, particularly when there was a complete deficiency of methylmalonyl-CoA mutase. It was noted that dietary restrictions in patients led to overt signs of deficiencies, such as skin rashes, hair loss, and poor growth. However, a more liberal intake of the restricted amino acids resulted in improved growth and less frequent episodes of illness, suggesting that treatment could be improved by adjusting dietary restrictions.
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