Mucopolysaccharidosis I Disease Testing

What is Mucopolysaccharidosis I (MPS-I)?

Mucopolysaccharidosis (MPS) is a group of inherited and progressive genetic disorders characterized by a deficiency of the lysosomal enzymes responsible for degradation of glycosaminoglycans.¹ The subsequent accumulation of intra-lysosomal accumulation products (chondroitin sulfate, heparan sulfate, dermatan sulfate and keratan sulfate) results in multi‑organ dysfunction involving various tissues.¹ This accounts for the different phenotypes seen in the Mucopolysaccharidosis disorders.¹

Mucopolysaccharidosis Ι (MPS-Ι) results from deficient activity of the lysosomal enzyme α‑L‑iduronidase (IDUA), which leads to an accumulation of the glycosaminoglycans (GAGs) dermatan sulfate and heparan sulfate.^1,2 Mucopolysaccharidosis I is inherited in an autosomal recessive manner and clinical findings may include developmental delay, musculoskeletal dysfunction, frequent upper respiratory tract infections, and cardiac involvement.² Symptoms of Mucopolysaccharidosis I vary in severity but are usually described as severe MPS-I (previously known as Hurler syndrome) and attenuated Mucopolysaccharidosis I (previously known as Hurler-Scheie and Scheie syndromes), with varying disease progression, organ involvement, and age of disease onset.²