Methylmalonic Acidemia

Methylmalonic acidemia is an inherited metabolic disorder in which the body cannot properly process certain proteins and fats, which causes a substance called methylmalonic acid to build up in the blood.

Why it happens: it is due to the lack or malfunction of an enzyme responsible for transforming these compounds, generally present from birth.

Signs that may appear: in babies there may be difficulty feeding, vomiting, excessive sleepiness, and poor weight gain.

Which specialist treats it? The pediatrician usually identifies the first signs, often through newborn metabolic screening, and coordinates the child's care. If a newborn shows these signs, it is important to evaluate them promptly to receive appropriate guidance.