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A Guide to Understanding MPS I (Hurler, Hurler-Scheie, and Scheie Syndromes)

key information

source: National MPS Society

year: 2021

summary/abstract:

What Is MPS I?

Mucopolysaccharidosis I (MPS I) is a rare genetic disorder that affects the entire body. It is also known as Hurler syndrome, named after Dr. Gertrude Hurler, a general practitioner, who in 1919 first described a boy and girl with severe symptoms of the condition. In 1962, Dr. Harold Scheie, an ophthalmologist, described individuals who displayed attenuated (less severe) symptoms and primarily were affected by corneal clouding. This apparently new condition was named Scheie syndrome (also temporarily known as MPS V) and was thought to be a different disease from Hurler syndrome. In the 1970s, there were several reports of individuals whose symptoms of intermediate severity did not fit clearly in either syndrome, and consequently, were categorized as Hurler-Scheie syndrome.

If you are a parent of a newly diagnosed child, or someone who has been diagnosed with MPS I yourself, it is important to remember that there is a wide spectrum of severity in how MPS I shows up and progresses:

It can be an attenuated (less severe) form that usually manifests in adolescence and progresses slowly, which is called Scheie syndrome and is less common.

It can be an intermediate form that usually manifests in late childhood, has some features of both the attenuated and severe forms, and progresses at an intermediate pace, which is called Hurler-Scheie syndrome.

 

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