INVESTIGATION OF NEWBORNS WITH ABNORMAL RESULTS IN A NEWBORN SCREENING PROGRAM FOR FOUR LYSOSOMAL STORAGE DISEASES IN BRAZIL

Abstract

Lysosomal storage diseases (LSDs) are clinically heterogeneous, genetic disorders caused primarily by defects in genes encoding lysosomal enzymes that degrade macromolecules. Several LSDs already have targeted therapies that can improve clinical outcomes, especially if used early in life.