Paul Orchard, MD, from the University of Minnesota Medical School, discusses the team approach needed to care for a person with mucopolysaccharidosis I (MPS I).
MPS I is a rare lysosomal storage disorder due to the reduced function of the enzyme alpha-L-iduronidase that leads to accumulation of glycosaminoglycans.
Symptoms, as well as symptom progression and severity, vary greatly in this population. In severe MPS I, often referred to as Hurler syndrome, numerous organs are impacted, including the brain. In attenuated MPS I, also referred to as Scheie-Hurler or Scheie syndrome, symptoms tend to be peripheral but can still impact numerous systems.
As Dr. Orchard explains, the multiple systems that are involved means multiple specialists are needed to care for these individuals. Specialists can include neurologists, orthopedic surgeons, cardiologists, gastroenterologists, ophthalmologists, audiologists, and pulmonologists.
To learn more about MPS I and obtain CME credit, visit our complimentary 4-part program on MPS I at https://checkrare.com/learning-center/p-mucopolysaccharidosis-i/