Galactose 1-phosphate uridyl transferase (Galactosaemia)

Description: 
The enzyme being measured catalyses the reaction: Galactose 1-phosphate + UDP-glucose → UDP-galactose + glucose 1-phosphate. Glucose 1-phosphate formed in the reaction is converted to glucose 6-phosphate by endogenous phosphoglucomutase. Endogenous glucose 6-phosphate dehydrogenase and 6-phosphogluconate dehydrogenase result in oxidation of the glucose 6-phosphate with reduction of added NADP to NADPH which is measured fluorimetrically over 45 min.
Related condition or disease: 
Galactosaemia, classic
Reference range: 

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Synonyms or keywords: 
Galactose Metabolism , Galactose 1-phosphate uridyl transferase, Galactosaemia
Department: 
Genetics Department
Location: 
Guy's Hospital
Sample type and Volume required: 
1ml lithium heparin blood
Call in advance: 
No
Turnaround time: 
2 - 5 days
Criteria for acceptance / rejections of sample
Storage and transport: 
transfusion may invalidate result, carrier testing can be carried out for parents of transfused individuals
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