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New test can spot early signs of inherited metabolic disorders

New test can spot early signs of inherited metabolic disorders
9th January 2012

A new test to spot the early signs of inherited metabolic disorders has been developed by researchers at the University of California and Zacharon Pharmaceuticals.

The study created a reliable test to identify biomarkers for mucopolysaccharidoses (MPS), which can currently only be diagnosed after symptoms have become serious and often irreversible.

Scientists claim that the innovative method can detect tell-tale carbohydrate structures specific to glycosaminoglycans in the cells, blood and urine of MES patients.

Moreover, the biomarker assay can identify all 11 known forms of the disease, which is caused by the absence or malfunctioning of a lysosomal enzyme required to break down and recycle glycosaminoglycans.

While there are a number of treatments for MES, their success depends on how early the condition is identified.

However, Dr Jeffrey D Esko, professor in the Department of Cellular and Molecular Medicine and co-director of the Glycobiology Research and Training Center at University of California San Diego, explains that this is often difficult: "The typical time from seeing first symptoms to diagnosis of MPS is about three years.

"Since the early signs of disease are common childhood issues like ear infections and learning disorders, the disease is usually not immediately recognised."

Giving patients the hormone epinephrine was thought to help combat some of the symptoms of MES, particularly in patients with Sly Syndrome.

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