Alpha galactosidase
Clinical Background:
Fabry disease is an X-linked disorder caused by deficiency of lysosomal alpha-galactosidase A.
Males with classical disease present during the first decade with severe pain in extremities, characte...
Fabry disease is an X-linked disorder caused by deficiency of lysosomal alpha-galactosidase A.
Males with classical disease present during the first decade with severe pain in extremities, characteristic skin lesions, gastrointestinal problems and corneal dystrophy. Patients develop renal, cardiac and cerebrovascular disease in adulthood.
Presentation of the disorder in female heterozygotes ranges from asymptomatic to the severe disease seen in males but with later onset and slower progression.
Male and female patients with mild, late-onset Fabry disease may present with atypical cardiac, renal or cerebrovascular disease.
Affected males are diagnosed by finding very low leucocyte alpha-galactosidase A activity, confirmed by identification of a mutation in the GLA gene.
Females have normal to low enzyme activity in leucocytes and plasma. A normal result does not exclude Fabry disease. Gene mutation analysis is also recommended when investigating female patients for Fabry disease.
Test Details
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Discipline:
Biochemistry
Biochemistry
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Specimen Container Adult:
EDTA whole blood or blood spot card
EDTA whole blood or blood spot card
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Specimen Container Paediatric:
EDTA whole blood or blood spot card
EDTA whole blood or blood spot card
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Minimum Volume Adult:
1 ml for screening test, 5ml for follow-up test
1 ml for screening test, 5ml for follow-up test
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Minimum Volume Paediatric:
1 ml for screening test, 5ml for follow-up test
1 ml for screening test, 5ml for follow-up test
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Transport Requirements:
Samples sent at ambient temperature
Samples sent at ambient temperature
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Reference Ranges:
Blood spot α-galactosidase 6.3 - 47 pmol/punch/hour
Plasma α-galactosidase 3 - 20 nmol/ml/hr
Leucocyte α-galactosidase 10 - 50 nmol/mg/hr
Blood spot α-galactosidase 6.3 - 47 pmol/punch/hour
Plasma α-galactosidase 3 - 20 nmol/ml/hr
Leucocyte α-galactosidase 10 - 50 nmol/mg/hr
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Other Info:
Ensure clinical information is included with requests.
Blood spot α-galactosidase is recommended as a first-line screening test. If levels are low, confirmation of leucocyte α-galactosidase is req...
Read MoreEnsure clinical information is included with requests.
Blood spot α-galactosidase is recommended as a first-line screening test. If levels are low, confirmation of leucocyte α-galactosidase is required on a 5 ml blood sample.
If Fabry disease is suspected in a female patient, genetic testing is recommended as enzyme levels in female Fabry patients may overlap with control ranges.
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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: