The GSP Neonatal GALT assay is used as an aid in screening newborns for classic galactosemia caused by GALT deficiency using the GSP™ instrument.
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Galactosemia is an inherited disorder caused by a deficiency of one of three enzymes responsible for the metabolism of a-D-galactose.The most common form of the disease, classic galactosemia is caused by deficiency ofgalactose-1-phosphate uridyltransferase (GALT). Classic galactosemia affects from 1 in 30,000 to 1 in 60,000 live births. If not diagnosed and treated within the newborn period, it can lead to diarrhea, dehydration, jaundice, hepatic failure, hypoglycemia, cataracts, developmental retardation, and death within a few weeks. Treatment of the disease consists of withdrawal of all foods containing lactose and galactose from the diet.
GSP Neonatal GALT - the first automated GALT assay:
In the GSP Neonatal GALT assay, GALT in the blood sample catalyzes a reaction between galactose-1-phosphate and uridine diphosphoglucose contained in the assay substrate reagent. In the course of further reactions NADP (nicotinamide adenine dinucleotide phosphate) also contained in the assay substrate reagent is reduced to NADPH, a fluorescent substance that can be measured with excitation at 355 nm and emission detection at 460 nm.
All PerkinElmer neonatal products may not be available in all countries.
Disclaimer: US only
|Product Brand Name||GSP®|
|Quantity in a Package Amount||1152.0 Units|
|Unit Size||1 Kit|
|Resource Type||File Name||File Format|
|Support Page||Newborn screening website||Link|