Use

Supporting the biochemical diagnosis of multiple sulfatase deficiency (MSD) in whole blood specimens. MSD is a rare autosomal recessive lysosomal storage disorder caused by mutations in the sulfatase-modifying factor 1 (SUMF1) gene. It affects the posttranslational activation of all human sulfatases. Clinical symptoms vary and may include signs similar to metachromatic leukodystrophy, mucopolysaccharidoses, and others. This test helps confirm reduced enzyme activity suggestive of MSD, but further biochemical or molecular tests are required for diagnosis.