Methylmalonic Acidemia: Can Treatment be Improved?
Pages 28-32
Kimberlee Michals-Matalon, Rachel Lombardo, Kimberly Bilger, Nancy Ross, Kelly Fuller, Debra Freedenberg and Reuben Matalon

DOI: http://dx.doi.org/10.6000/1929-5634.2015.04.01.6

Published: 30 April 2015

Abstract: Methylmalonic acidemia (MMA) is a severe metabolic disorder, particularly with complete deficiency of methylmalonyl-CoA mutase. Dietary restriction has led to overt signs of deficiencies including skin rashes, hair loss, and poor growth. More liberal intake of the restricted amino acids has resulted in better growth and less frequent episodes of illness.

Keywords: MMA, hyperammonemia, carnitine, carglumic acid, newborn screen.