Although classic galactosaemia is a rare inherited disease (1 in 70,000), it is among the most common carbohydrate metabolism disorders. It can be a life-threatening illness during the newborn period. It is caused by mutation in the galactose-1-phosphate uridyltransferase (G1PUT) gene on chromosome 9 at 9p13.
The cardinal features are hepatomegaly, cataracts and mental handicap. Almost invariably presents in the neonatal period with vomiting and failure to gain weight. Jaundice and hepatomegaly develop. Galactosaemia should be considered when a term infant gets an Escherichia coli sepsis and when a neonate develops cataracts. It should also be considered in any neonate with conjugated hyperbilirubinaemia or haemorrhage.
|Sample & container required||Heparin (green top)|
|Sample volume||Preferably 2 mL (absolute minimum 0.5 mL)|
|Transport storage||Sample must arrive at the referral lab within 24 h of collection. If you wish to send a sample on a Friday, please contact the laboratory first.|
|Turnaround time||Up to 6 weeks|
Not currently performed in house; this is a referred test. Blood transfusion in the previous 6 weeks will invalidate the result. Affected, untreated patients will have a high level of urine reducing substances (REDU), almost all of which will be galactose. REDU is an in-house test.