Treballs Finals de Grau de Química, Facultat de Química, Universitat de Barcelona, Any: 2014, Tutors: Dra. Elisabet Fuguet Jordà i Dr. Rafael Artuch IriberriIn the present work a reported analytical method was optimized in order to improve the
diagnostic of a rare disease: Mucopolysaccharidoses type III (MPS III). This process is based
on the separation and quantification of hexosamines (glucosamine and galactosamine),
released as products of glycosaminoglycans (GAGs) hydrolysis presents in urine, by HPLC and
detected by fluorescence measures. The concentration of galactosamine and glucosamine in
urine of 20 persons as control sample and 9 patients with MPS III was determined. The control
group showed similar concentrations of both hexosamines in urine, whereas in the group of
MPS III patients the concentration of glucosamine was significantly higher than galactosamine.
According to the obtained data, it was demonstrated that the ratio of concentrations
galactosamine/glucosamine is the most useful parameter to discern people affected by MPS III,
being a normal ratio 0.91±0.08 and 0.28±0.03 the ratio to diagnose the disease. It was
established a unique reference interval to control sample for every considered biochemical
parameter. According to the procedure, GAGs were hydrolyzed with HCl and the released
hexosamines were derivatized with anthranilic acid. Finally, different products were separated and quantified by reverse phase HPLC and with fluorescence detector
