Novel Test for the Diagnosis of Phenylketonuria (PKU)
- Detailed Technology Description
- None
- *Abstract
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BackgroundPhenylketonuria (PKU) is a genetic disorder caused by a deficiency of phenylalanine hydroxylase that is required to metabolize the amino acid phenylalanine to tyrosine. This deficiency results in accumulation of Phe in blood, urine, and cerebrospinal fluid, which leads to mental retardation soon after birth if left untreated. PKU occurs in 1 of every 12, 000 births in North America. Routine screening and early treatment for PKU is recommended for all newborns.TechnologyInvestigators at the University of Pittsburgh have developed an accurate and inexpensive sensor for PKU in the blood. The sensor readout is a visual color change, allowing for easy quantization of PKU. Application1. Point of care sensor for the detection of phenylketonuria (PKU).Advantages1. Use does not require specialized training2. Easier and less expensive than other qualitative screening tests such as fluorometric analysis and tandem mass spectometry.3. Faster results than the standard Guthrie BIA test.4. Higher specificity and sensitivity than current testing methods.5. Process can be automated for easier determination of results.Stage of DevelopmentPrototypeProvisional Patent Application filed
- *Principal Investigator
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Name: Sanford Asher
Department: Chemistry
Name: JIA LUO
Department: Chemistry
- Country/Region
- USA
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