Galactose-1-phosphate uridyl transferase
Clinical Background:
Screening test for classical galactosaemia (galactose-1-phosphate uridyl transferase deficiency). Other causes of galactosaemia are not diagnosed by this test.
Patients usually present with progre...
Screening test for classical galactosaemia (galactose-1-phosphate uridyl transferase deficiency). Other causes of galactosaemia are not diagnosed by this test.
Patients usually present with progressive symptoms after the start of milk feeds, usually starting on day 3 or 4 of life: vomiting, diarrhoea, jaundice, disturbances of liver function, development of bilateral cataracts, sepsis.
If a patient has received a blood transfusion within the previous four months, the test is not suitable for diagnosis of galactosaemia. Urine galactitol is the recommended test. Blood galactose-1-phosphate is an alternative test in these patients.
Test Details
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Discipline:
Biochemistry
Biochemistry
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Specimen Container Paediatric:
Preferred sample type: Lithium-heparin whole blood (EDTA not to be used)
Blood spots on Guthrie cardPreferred sample type: Lithium-heparin whole blood (EDTA not to be used)
Blood spots on Guthrie card -
Minimum Volume Paediatric:
0.5 mL blood
0.5 mL blood
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Special Requirement:
Test is not reliable if patient has had a blood transfusion within four months.
If urgent analysis is required, please contact the metabolic laboratory at the RVI.
Test is not reliable if patient has had a blood transfusion within four months.
If urgent analysis is required, please contact the metabolic laboratory at the RVI.
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Routine Contact Name:
Duty Biochemist
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Routine Telephone:
Freeman: 0191 244 8889
RVI: 0191 282 9719
Freeman: 0191 244 8889
RVI: 0191 282 9719
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Routine Email:
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Specialist Test:
Yes
Yes
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Specialist Contact Name:
Metabolic Clinical Scientist
Metabolic Clinical Scientist
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Specialist Telephone:
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
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Specialist Email: