A new diagnostic assay for classic galactosemia

Classic galactosemia is a genetic condition that can lead to life-threatening complications, including feeding problems, failure to thrive, liver damage, bleeding, and sepsis. If a lactose-restricted diet is provided during the first ten days of life, the neonatal symptoms quickly resolve and reduce the risk of severe complications. However, despite adequate treatment from an early age, children with classic galactosemia remain at increased risk for developmental delays, speech problems, and motor function abnormalities.

The Need

Early diagnosis is essential for successfully treating this disease; however, current diagnostic products are complicated, expensive, and have limited sensitivity. Also, it has limited availability in underdeveloped countries. A rapid, easy-to-use, and cost-effective point-of-care assay could help reduce the burden of the condition globally.

The Technology

This technology describes a rapid and easy-to-use diagnostic assay for Classic Galactosemia that uses Salmonella YidA, which has a strong bias for glucose-1-phosphate (Glc-1-P) versus galactose-1-phosphate (Gal-1-P). Data indicate that Glc-1-p uridylyltransferase is defective in those with the condition and a highly sensitive detection method. A prototype colorimetric test was created and showed high specificity for Glc-1-p and could be a market for the disease.

Commercial Applications

This invention can be used for the early detection of Classic Galactosemia.


Existing diagnostics are complicated to perform and are often inaccurate. This invention could be a new early detection modality using a differentiated biomarker for enhanced sensitivity and specificity. It is a simple and inexpensive test for Classic Galactosemia.


  • US Utility patent has been filed.

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