Hurler syndrome is a debilitating metabolic disease. Alongside a team of experts focused on Hurler syndrome, Protheragen is committed to the development of cutting-edge IVD products for the syndrome. We also support the rapid diagnosis and personalized therapy of Hurler syndrome through the provision of point-of-care testing as well as companion diagnostic development services.

Introduction to Hurler Syndrome

Hurler syndrome, or mucopolysaccharidosis type I (MPS I), is a rare genetic lysosomal storage disorder resulting from the mutation of the IDUA gene, which is responsible for coding the enzyme alpha-L-iduronidase needed for the degradation of complex sugars known as glycosaminoglycans. For those who suffer with Hurler syndrome, the lack of presence or deficiency of such enzyme results in the storage of GAGs within the cells, tissues, and organs which causes them to be damaged over time whilst exhibiting an array of chronic and severe symptoms.

Fig. 1 Representative inflammatory pathways and activated innate immunity in Hurler syndrome. (Ago, Yasuhiko, et al., 2024)

Diagnostic Biomarkers for Hurler Syndrome

Because of the diverse and overlapping sign and symptoms, Hurler syndrome is difficult to diagnose as it can easily be mistaken for other disorders resulting in confusion and late diagnosis. Diagnostic biomarkers can help by furnishing relevant clues required for accurate diagnosis of Hurler syndrome. These biomarkers are critical for determining a diagnosis, tracking the advancement of the disease, and assessing the response to treatment.

GAGs are complex sugars that accumulate in tissues and bodily fluids due to the deficiency of the enzyme alpha-L-iduronidase. Elevated levels of specific GAGs, such as dermatan sulfate and heparan sulfate, are hallmark biomarkers of Hurler syndrome.

Glycosaminoglycans (GAGs)

The activity of the enzyme alpha-L-iduronidase is significantly reduced or absent in individuals with Hurler syndrome. alpha-L-iduronidase enzyme activity is measured in blood, leukocytes, or fibroblasts using fluorometric or spectrophotometric assays.

Alpha-L-Iduronidase

Mutations in the IDUA gene are the genetic cause of Hurler syndrome. Genetic testing can provide a definitive diagnosis and help differentiate between severe, moderate, and mild forms of MPS I. DNA sequencing is used to identify pathogenic mutations.

IDUA Gene

IVD Kits for Hurler Syndrome

In vitro diagnostic (IVD) kits facilitate the accurate diagnosis of Hurler syndrome. These kits help take the measurement of key biomarkers which include but are not limited to glycosaminoglycans (GAGs), an enzyme's activity and identification of IDUA genetic mutations. By providing a standardized, easy to use diagnostic solution, the IVD kits help improve care outcome, aid in the ongoing monitoring of the disease and therapeutic effectiveness, as well as reduce diagnostic delays. At present, there are many IVD kits targeted for diagnosis of Hurler syndrome on the market.

Our Services

Recognizing the challenges of Hurler syndrome diagnosis, Protheragen is focused on providing customized IVD solutions for this rare metabolic disease. Our scientists are skilled in designing customized gene detection kits to accurately detect pathogenic mutations in the IDUA gene. By deeply studying the pathological metabolic pathways of Hurler syndrome, we are able to develop corresponding metabolite detection kits to achieve convenient and comprehensive diagnosis.

Featured IVD Kit Development Services

IVD Product Development Services

Additionally, our services include point-of-care testing (POCT) and companion diagnostic development tailored for Hurler syndrome. These offerings are instrumental in facilitating rapid detection and personalized therapies of diseases. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.