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
- Reference range
- Contact laboratory
- Synonyms
- Galactose Metabolism , Galactose 1-phosphate uridyl transferase, Galactosaemia
- Testing site
- Synnovis : Reference Services : Guy's Hospital
- Laboratory
- Biochemical Genetics
- Sample type and volume required
- 1ml lithium heparin blood
- Call in advance
- No
- Storage and transport
- transfusion may invalidate result, carrier testing can be carried out for parents of transfused individuals
- Turnaround time
- 2 - 5 days
- Contacts
Biochemical Genetics Laboratory at Guy’s Hospital
Phone: 020 7188 2592
Email: MetabolicEnzymes@synnovis.co.uk
Genetics Department
Tower Wing – 5th Floor
Guy’s Hospital
Great Maze Pond
London SE1 9RT