Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management

The mucopolysaccharidoses (MPS) are a group of rare progressive genetic disorders of glycosaminoglycan (GAG) metabolism caused by deficiency of enzymes responsible for lysosomal GAG degradation. The accumulation of partially degraded GAG and the resulting disturbance of cellular homeostasis leads to progressive cellular and tissue damage ultimately resulting in multiorgan system involvement.1 Mucopolysaccharidosis type 1 (MPS I) results from deficiency of the lysosomal enzyme α-L-iduronidase (IDUA) because of pathogenic variants in the IDUA gene.