Galactokinase (Galactokinase deficiency)

Description: 
The enzyme being measured catalyses the reaction Galactose + ATP → Galactose 1-phosphate + ADP. [14C]-galactose is used as a substrate and the [14C]-galactose 1-phosphate formed is bound to DEAE-cellulose paper. Unreacted [14C]-galactose is removed by washing the paper, and the final bound product is determined by liquid scintillation counting.
Related condition or disease: 
Galactosaemia, Galactokinase
Reference range: 

Age matched, contact laboratory

Synonyms or keywords: 
Galactose Metabolism, Galactokinase, Galactosaemia
Department: 
Genetics Department
Location: 
Guy's Hospital
Sample type and Volume required: 
1ml lithium heparin blood
Call in advance: 
Yes
Turnaround time: 
1 week
Criteria for acceptance / rejections of sample
Storage and transport: 
Blood samples should reach the laboratory within 24 hours of collection; do not freeze or separate.
Contacts:
Biochemical Genetics Laboratory at Guy's Hospital
Genetics Department
Tower Wing - 5th Floor
Guy's Hospital
Great Maze Pond
London SE1 9RT

T: 020 7188 2591/2592
F: 020 71887275
E: ViapathBiochemicalGenetics@gstt.nhs.uk
For clinical advice or interpretation of results, please contact the laboratory in the first instance.
Laboratory: 
Biochemical Genetics Laboratory at Guy's

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Last updated: 07/08/2015