Carbohydrate Disorders

Galactosaemia screen

Patients with unexplained or prolonged jaundice should be screened for classical galactosaemia. The condition is often accompanied by septicaemia, has an incidence of around 1 in 45,000 births and is exacerbated by lactose containing milk. Reducing substances are not always found in urine and therefore a Beutler screening test should be carried out. Approx. 0.2 – 0.5ml heparinised blood should be sent directly to the laboratory. Note: the test is not valid if the patient has undergone a recent blood transfusion (within 4 months) and the test could also give a false positive result with G-6-PD deficiency. Transfused patients would require Gal-1-P analysis on whole heparinised blood (5ml). Since these samples require immediate processing it is important to warn the lab of any Gal-1-P analyses.

Test Required specimen & volume Special precautions Turnaround time Reference ranges Section
Sugar Chromatography 5ml plain U None 3 working weeks Qualitative Metabolites

Pompe (GSDII)

5ml EDTA Must reach laboratory within 48 hours of venepuncture 2 working weeks 3 – 20 µmol/g/h – acarbose
2 – 15 µmol/g/h + acarbose
Cross Reactive Immunologic Material (CRIM) Analysis for
Pompe disease
Contact laboratory for information Contact laboratory 3 working days Qualitative Lysosomal
Beutler Test


0.5 ml HEP Must reach laboratory within 24 hours of venepuncture 3 working days Qualitative Metabolites

Galactosaemia monitoring

5ml HEP Must reach laboratory within 24 hours of venepuncture 3 working weeks 5 – 10 µg/ml packed red cells Metabolites