Raymond Wang, MD, Metabolic Specialist and Director of the Multidisciplinary Lysosomal Storage Disorder Program at Children's Hospital of Orange County, gives an overview of mucopolysaccharidosis type I (MPS I), also referred to as Hurler syndrome.
As Dr. Wang explains, MPS I is an inherited lysosomal storage disorder caused by a deficiency in the enzyme, alpha-L-iduronidase, which is responsible for breaking down glycosaminoglycans (GAGs). These GAGs accumulate in the tissues of MPS I patients, resulting in a diverse clinical profile. In moderate to severe forms of the disease, this accumulation in the central nervous system leads to hydrocephalus, spinal cord compression, and cognitive impairment. Additional symptoms may include clouded corneas; enlarged liver, spleen, and heart; noisy breathing; recurring upper respiratory tract; ear infections; difficulty swallowing; and periodic bowel problems.
There are currently two treatment options for MPS I patients, enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT). Both therapies have their benefits and shortcomings.
To learn more about MPS I and other rare lysosomal storage disorders, visit [ Ссылка ]
