After Reviewing Publications About MPS III, Researchers Say More Studies Need to be Carried Out

Researchers have carried out a literature review to investigate MPS III. After reviewing forty-six papers, they concluded that more research needs to be carried out. You can find the original study here, at the Orphanet Journal of Rare Diseases.

About Mucopolysaccharidosis III

Mucopolysaccharidosis III (MPS III), also known as Sanfilippo syndrome, is a rare genetic condition that leads to neurocognitive degeneration. It is caused by the build-up of long-chain sugar molecules in cells. People with MPS III lack an enzyme that is needed to break down this substance, and, as a result, it collects in high levels and causes damage. There are four main types of MPS III, known as types A, B, C, and D. Which type a person has depends on which specific enzyme is affected.

About the Review

In a paper called ‘Epidemiology of Sanfilippo syndrome: results of a systematic literature review’, researchers carried out a systematic review of the literature about MPS III to better understand the epidemiological data (how often the disorder occurs in different groups and why). This included information on the frequency of the condition and how it varied between areas.

To do this, they searched several databases for published studies that included terms related to MPS. From this, they found 2794 publications. After reading the titles and abstracts, they narrowed this list down to 116 papers. The researchers then read the entire text, and finally compiled a list of 46 relevant papers that they used for the review.

What the Researchers Found

The researchers found that all four forms of MPS III are very rare, and that, combined, the lifetime risk at birth (the proportion of newborns who are or will be affected) was estimated to be 0.17 to 2.35 per 100,000 live births. The most common subtype of MPS III, type A, was found to have a lifetime risk at birth range of 0.00 to 1.62 per 100,000 live births. However, there were many different estimates of these figures, which the researchers attribute in part to different methods used in the studies. The researchers concluded, “higher-quality epidemiological data are needed to appropriately target resources for disease research and management.”


Anna Hewitt

Anna Hewitt

Anna is from England and recently finished her undergraduate degree. She has an interest in medicine and enjoys writing. In her spare time she likes to cook, hike, and hang out with cats.

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