Capillary electrophoresis with laser-induced fluorescence detection for laboratory diagnosis of galactosemia

Galactosemia, a metabolic disorder associated with the intolerance to dietary galactose due to an inherited enzymatic deficiency, is indicated by heightened levels of galactose in urine (galactosuria). In this report, capillary electrophoresis (CE) with laser-induced fluorescence detection was evaluated for its ability to screen urinary carbohydrates, particularly galactose. Neonatal urine samples with normal and abnormal levels of galactose were analyzed with galactose concentrations quantitated relative to urinary creatinine concentrations to account for variable urinary dilution. Analysis of nine samples by CE in a single-blind manner defined four as negative (normal) and five as positive for galactosuria with galactose levels as high as 146.8±5.9 mM. Galactosuria was correlated with clinical galactosemia diagnoses for four of the positive samples, while the remaining positive was associated with a patient diagnosed with Hurler’s syndrome.