Introduction to Galactosemia
Galactosemia is an inherited metabolic disorder that prevents the body from converting galactose into glucose. If left undetected and untreated, it can cause serious complications, especially in infants. α-D-galactose is metabolized through a series of reactions in the Leloir cycle. Three enzymes catalyze these reactions: galactokinase (GALK, EC 2.7.1.6), galactose-1-phosphate uridylyltransferase (GALT, EC 2.7.7.12), and UDP-galactose 4’-epimerase (GALE, EC 5.1.3.2). Deficiency of even one of these enzymes in humans causes the inherited metabolic disorder galactosemia. The most common and severe form of galactosemia is GALT deficiency.
Incidence: The incidence of galactosemia is 1/30,000 – 1/60,000
Semi-automatic solution
- Product name: Neonatal Total Galactose kit
- Product code: 3029-0010
- Manufacturer: Wallac Oy – Finland
- Packing: 960 tests
- Test principle:
The Neonatal Total Galactose reagent kit uses the fluorescence signal of galactose oxidase. The test allows the determination of the concentration of total galactose, such as galactose and galactose-1-phosphate. The fluorescence signal with a central wavelength of 405nm is measured using an excitation light of 340nm wavelength.
Application: The kit is used to quantify the total concentration of galactose (galactose and galactose-1 phosphate) in dried blood samples on dried blood blotting paper of newborns from 2 to 4 days old on the VICTORTM 2D fluorescence meter to screen for Galactosemia in newborns. Suitable for hospitals with small and medium sample volumes.
Other equipment required for the test:
VICTORTM 2D Fluorometer
Wallac DBS Puncher or Panthera-Puncher™ 9 Dry Blood Puncher
DELFIA® Plateshake
- Product name: Neonatal GALT
- Product code: NG-1100 / NG-4100
- Manufacturer: Wallac Oy – Finland
- Packing: 960 / 4800 tests
- Test principle:
The Revvity GALT test is an adapted version modeled after the Beutler and Baluda semi-quantitative test. After ethanol precipitation, fluorescence is measured using an excitation wavelength of 355 nm and an emission wavelength of 460 nm.
Application: The kit is used to determine the concentration of galactose-1-phosphate uridyl transferase (GALT) in dried blood samples on dried blood blotting paper of newborns from 2 to 4 days old on the VICTORTM 2D fluorescence meter to screen for Galactosemia in newborns due to GALT deficiency. Suitable for hospitals with small and medium sample volumes.
Other equipment required for the test:
- VICTORTM 2D Fluorometer
- Wallac DBS Puncher or Panthera-Puncher™ 9 Dry Blood Puncher
- TriNEST™3 Microplate Incubator Shaker
Automated Solution
- Product Name: GSP® Neonatal Total Galactose kit
- Product Code: 3309-0020
- Manufacturer: Wallac Oy – Finland
- Packing: 1152 tests
- Test Principle:
The GSP Neonatal Total Galactose kit uses the fluorescent galactose oxidase method. The test allows the determination of total galactose concentration, i.e. the quantification of both galactose and galactose-1-phosphate. The fluorescence signal is measured using an excitation wavelength of 505 nm and an emission wavelength of 580 nm.
Application: The kit is used to quantify total galactose (galactose and galactose -1-phosphate) on dried blood spots of newborns from 2 to 4 days old on the GSP® system to screen for galactosemia. Suitable for hospitals and testing centers with medium and large sample volumes.
Other equipment required for the test:
GSP® system
Wallac DBS Puncher or Panthera-Puncher™ 9
Product name: GSP® Neonatal GALT kit
Product code: 3303-0010
Manufacturer: Wallac Oy – Finland
Packing: 1152 tests
Test principle:
The GSP Neonatal GALT test is developed from the Beutler and Baluda semi-quantitative enzyme test. The fluorescence signal is measured using an excitation wavelength of 355 nm and an emission wavelength of 460 nm.
Application: The kit is intended for the semi-quantitative determination of galactose-1-phosphate uridyl transferase (GALT) enzyme activity on dried blood spots from 2-4 days old newborns on the GSP® system for screening of galactosemia caused by GALT deficiency. Suitable for hospitals and testing centers with medium to large sample volumes.
Other equipment required for the test:
- GSP® system
- Wallac DBS Puncher or Panthera-Puncher™ 9
