a Biochemical tests for screening and timely diagnosis of Mucopolysaccharidosis for population at risk

Abstract

Mucopolysaccharidosis are rare, low prevalence diseases and are of lysosomal deposit. They are produced by the accumulation of different types of glycosaminoglycans due to the genetic defect that produces the absence of the respective enzymes for their degradation. We propose biochemical tests for the screening and timely diagnosis of mucopolysaccharidosis for the ecuadoran population at risk. Spectrophotometry with dimethyl methylene blue reagent was used to determine concentrations of glycosaminoglycans in urine samples, from patients with mucopolysaccharidosis diagnosis and healthy patients. Agarose gel electrophoresis was used to classify the type of mucopolysaccharidosis. In the present investigation we determined the concentration of glycosaminoglycans in urine samples, with a statistically significant difference between healthy patients and patients with a diagnosis of MPS. However, the electrophoresis technique did not allow classifying the various types of mucopolysaccharidosis. The concentrations of glycosaminoglycans in patients with mucopolysaccharidosis are higher than those of healthy patients, therefore the technique is valid for the determination of glycosaminoglycans. Spectrophotometry with dimethyl methylene blue is suitable for the screening and diagnosis of mucopolysaccharidosis. The methodology used for the correct classification of the type of mucopolysaccharidosis, by electrophoresis in agarose, did not give conclusive results.