Alpha glucosidase
Clinical Background:
Screening for Pompe disease, alpha-glucosidase deficiency
Infantile Pompe disease presents with severe (cardio) myopathy, hypotonia, respiratory failure, failure to thrive; and if untreated, is fat...
Screening for Pompe disease, alpha-glucosidase deficiency
Infantile Pompe disease presents with severe (cardio) myopathy, hypotonia, respiratory failure, failure to thrive; and if untreated, is fatal in the first year.
Juvenile and adult forms are less severe, presenting with slow progressive muscle weakness and atherosclerosis.
Test Details
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Discipline:
Biochemistry
Biochemistry
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Specimen Container Adult:
EDTA whole blood or bloodspot card
EDTA whole blood or bloodspot card
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Specimen Container Paediatric:
EDTA whole blood or bloodspot card
EDTA whole blood or bloodspot card
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Minimum Volume Adult:
0.5 ml or 2 blood spots
0.5 ml or 2 blood spots
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Minimum Volume Paediatric:
0.5 ml or 2 blood spots
0.5 ml or 2 blood spots
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Transport Requirements:
Samples sent at ambient temperature
Samples sent at ambient temperature
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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: