HPLC ANALYSIS OF OLIGOSACCHARIDES IN URINE FROM OLIGOSACCHARIDOSIS PATIENTS

Analysis of urinary oligosaccharides by thin-layer chromatography (TLC ) is used as screening procedure for 10 different lysosomal diseases. We tested the usefulness of HPLC in screening, using a CarboPac PAI co lumn (Dionex), pulsed amperometric detection (PAD), and postcolumn der ivatization (PCD). Patterns from six types of oligosaccharidoses were compared with normal urinary patterns and with the TLC patterns. PAD a ppeared to be nonspecific and therefore is applicable only to desalted urine samples. PCD was more specific and applicable to nondesalted ur ine samples, albeit with a lower resolving power. Peaks in urines from oligosaccharidoses patients were identified on the basis of retention times of commercially available oligosaccharides or TLC bands after i solation and HPLC of the corresponding oligosaccharides. Abnormal olig osaccharide peaks were seen in urines from patients with alpha-mannosi dosis, G(M1)-gangliosidosis (juvenile), G(M2)-gangliosidosis (Sandhoff disease), Pompe disease, and beta-mannosidosis. HPLC detected no abno rmal oligosaccharides in urine from patients with fucosidosis. Althoug h TLC is a simple and reliable screening procedure for detecting class ical lysosomal diseases with oligosaccharide excretion, HPLC, by its h igher resolution and possibility of quantification, can more generally be used for recognition of abnormal oligosaccharides or detection of increased excretion or content for known oligosaccharides in urine, ot her body fluids, and cells.