Galactokinase
| Category | Biochemistry |
|---|---|
| Test background |
Deficiency of this enzyme is one of the rarer, non-classic, causes of galactosaemia. The classic form of galactosaemia is associated with galactose-1-phosphate uridyltransferase (G1PUT) deficiency. Like G1PUT deficiency, galactokinase deficiency causes cataracts in the neonatal period, but the early systemic effects of galactokinase deficiency are less severe. |
| Clinical Indications |
Do not test unless the common form of galactosaemia has been eliminated from diagnosis. |
| Reference range | See report |
| Sample & container required | Heparin (green top) |
| Sample volume | 2 mL |
| Turnaround time | Up to 6 weeks |
| Notes | Please contact lab prior to sending. |