hrp0082p3-d3-841 | Growth (2) | ESPE2014
Eyskens Francois
Background: Methylmalonic acidemia (MMA) is an inborn error of metabolism affecting the catabolism of essential amino acids: valine, isoleucine, methionine, and threonine. A great problem in these children is that of a growth abnormality with progressive slowing of the statural growth rate, in contrast with a normal or even accelerated weight gain. These abnormalities are accompanied by bone demineralization and muscle hypotonia.Objective and hypotheses:...