ABSENCE OF ACIDOSIS IN THE INITIAL PRESENTATION OF PROPIONIC ACIDEMIA

The clinical presentation and results of the initial biochemical and h aematological investigations in 11 newborn term infants with propionic acidaemia are described. Ah patients had neurological symptoms. Only four had clinically important acidosis, but all had a raised blood amm onia. a diagnosis of propionic acidaemia should be considered in all n ewborn infants with unexplained neurological deterioration even in the absence of a metabolic acidosis.