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

Background: Glutaric aciduria type I (GA1) is an autosomal recessive disorder that usually causes neurological damage. Early diagnosis of the disease prior to the appearance of clinical symptoms can lead to better outcomes.

Methods: We describe a simple and selective HPLC method with intramolecular excimer-forming fluorescence derivatization to diagnose GA1.

Determination of methylmalonic acid in urine by HPLC with intramolecular excimer-forming fluorescence derivatization.

We developed and validated an HPLC method with intramolecular excimer-forming fluorescence derivatization to determine methylmalonic acid, a unique biochemical marker for methylmalonic aciduria. Methylmalonic acid in urine and an internal standard were derivatized with pyrenebutyric hydrazide and separated on a C8 column. The derivatives were detected by monitoring the fluorescence at 475 nm (excitation wavelength 345 nm).