[Propionic acidemia in the neonatal period]

Propionic Acidemia is an inherited disorder of organic acid metabolism characterized by a wide spectrum of clinical and biochemical findings. Many times is present in the neonatal period, when mortality is high and neurologic residua in survivors is severe. The present case concerns to a healthy male newborn who started with a picture of refusing to feed, lethargy and hypothermia at 49 hours of life. He developed a severe neurotoxicity state with metabolic acidosis. The laboratory evaluation showed high levels of 3-hidroxi-propionic, 2-metil-hidroxibutiric and metil-citric in urine, confirming the diagnosis of proprionic acidemia.