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
- Reference range
- Age matched, contact laboratory
- Synonyms
- Galactose Metabolism, Galactokinase, Galactosaemia
- Testing site
- Synnovis : Reference Services : Guy's Hospital
- Laboratory
- Biochemical Genetics
- Sample type and volume required
- 1ml lithium heparin blood
- Call in advance
- Yes
- Storage and transport
- Blood samples should reach the laboratory within 24 hours of collection; do not freeze or separate.
- Turnaround time
- 1 week
- 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