Abstract

 Newborn screening for additional metabolic diseases using second-tier strategies

Jürgen G. Okun

Newborn screening has to be evaluated continuously. Increased propionylcarnitine levels in dried blood are indicative for propionic acidemia, methylmalonic acidemias and combined remethylation disorders. Because this alteration is non-specific, we aimed to develop a multiplex approach for additional derivatives in the same sample. A considerable number of children will benefit from this second tier strategy.