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Single Screening of Newborns for 8 Lysosomal Storage Diseases, Including MPS, Possible
Researchers have developed an efficient way of screening newborns for eight lysosomal storage diseases — including five mucopolysaccharidosis (MPS) disorders — at the same time, a large Taiwanese study shows. The work suggests that this method could be used in newborn screening around the world to detect these disorders and initiate appropriate care following a positive diagnosis. The study, “Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns,” was published in the Orphanet Journal of Rare Diseases.
Lysosomal storage diseases are inherited metabolic diseases characterized by an abnormal buildup of toxic molecules inside lysosomes — cellular compartments responsible for breaking down and recycling molecules — as a result of enzyme deficiencies. These disorders may affect different parts of the body, including bones, the heart, and central nervous system (brain and spinal cord).
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