[The neonatal form of propionic acidemia]

A neonatal form of propionic acidemia is reported. Diagnosis was made by gas chromatography, mass spectrometry and urine excretion of 3-hydroxy-propionate and methylcitrate. Fibroblast cultures demonstrated an extremely low incorporation of C14-propionate, 6.5% range of normal values. Activity of propionyl-CoA-carboxylase was reduced. Intensive measures, including exchange-transfusion and ventilatory support, allowed life maintenance through neonatal period. Management of infant at three-month-old is based upon special diet with restriction of nocive amino acids, L-carnitine administration and infectious prophylaxis.