The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses.

Guenzel AJ, Hall PL, Scott AI, Lam C, Chang IJ, Thies J, Ferreira CR, Pichurin P, Laxen W, Raymond K, Gavrilov DK, Oglesbee D, Rinaldo P, Matern D, Tortorelli S