Enfoque simplificado para el diagnóstico de enfermedades lisosomales en niños (Simplified diagnostic approach in the lysosomal storage diseases in children)

SUMMARY There are more than 50 lysosomal steerage disorder in the world. The incidence is approximately 1 in every 5,000 newborns. Lysosomal steerage disorder shows a common pathogenetic pattern: a genetic defect in one or various specific lysosomal enzyme which leads to deficient enzymatic activities. Lysosomas in macrophages contain hydrolase acids that act on macro molecules to reduce them to small particles which are recycled or eliminated in the body. When the elimination of the substrate is not adequate, they are progressively accumulated in the cell, thereby interfere with the normal cellular activities at different levels, the outcome of which may be cell death. The different kinds of substrates accumulated in diverse cells of the body produce alterations in many organs with great variability in their clinical expression. The evolution is chronic and progressive depending on the quantity of accumulated substrates as well as its prognosis in relation to the time of its diagnosis and treatment. It is therefore necessary that there is adequate understanding of these disorders considered rare, progressive, incurable, and mortal.