Quantification of glutaric and 3-hydroxyglutaric acids in urine of glutaric acidemia type I patients by HPLC with intramolecular excimer-forming fluorescence derivatization

The method enabled us to differentiate GA1 cases (n = 36) from controls (n = 99), regardless of the years of urine storage. The method is valuable for both retrospective and prospective diagnoses of GA1.