Disease at a Glance

Mucopolysaccharidosis refers to a group of inherited conditions in which the body is unable to properly breakdown mucopolysaccharides (long chains of sugar molecules that are found throughout the body). As a result, these sugars buildup in cells, blood and connective tissue which can lead to a variety of health problems. Associated signs and symptoms and the severity of the condition vary significantly by form. In general, most affected people appear healthy at birth and experience a period of normal development, followed by a decline in physical and/or mental function. As the condition progresses, it may affect appearance; physical abilities; organ and system functioning; and, in most cases, cognitive development. The underlying genetic cause varies by form. Most cases are inherited in an autosomal recessive manner, although one specific form (Type II) follows an X-linked pattern of inheritance.
Estimated Number of People with this Disease
In the U.S. there may be between

3,000 to 30,000

What Information Does GARD Have For This Disease?


*Data may be currently unavailable to GARD at this time.
When do symptoms of this disease begin?
This section is currently in development. 




This section is currently in development. 

Next Steps

Talking with the Medical Team


Describing Symptoms


To help describe a symptom:

  • Describe each symptom by answering the following questions:
    • When did the symptom start?
    • How often does it happen?
    • Does anything make it better or worse?
  • Tell the medical team whether any symptoms affect daily activities

Preparing for the First Visit


    Make informed decisions about health care: 
    • Prepare a list of questions and concerns before the appointment
    For future appointments:
    • Discuss what was not addressed at the last visit
    Take notes during the appointments to help remember what was discussed.

    Last Updated: Nov. 8, 2021