Symptomatic or corrective management

Symptomatic management for MPS I generally includes using supportive care and the treatment of complications - with attention to the respiratory and cardiovascular complications, skeletal manifestations, arthropathy, loss of hearing and vision, gastrointestinal symptoms, and communicating hydrocephalus (see table 1). While these treatments are appropriate strategies in managing MPS I and typically improve the quality of life for patients and their families, they do not address the underlying cause of MPS I -- the alpha-L-iduronidase deficiency leading to progressive cellular accumulation of glycosaminoglycans (GAG’s) throughout the patient's body.

Table 1: Symptomatic or corrective management of MPS I [1]

*CPAP= Continuous positive airway pressure

Given the intellectual involvement in the severe disease, it is paramount that infants with MPS I be given a stimulating environment to foster as much learning as possible during the early stages; some skills may be retained during the period of general deterioration and even with limited language skills, enjoyment of life is still possible.

References

1. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, et al, editors. The Metabolic and Molecular Bases of Inherited Disease. Vol. III. 8th ed. New York: McGraw-Hill; 2001. p. 3421-52.