Newcastle Laboratories

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.  Plasma lyso-galabiosylceramide (lyso-Gb2) is a sensitive and useful biomarker for the diagnosis of Fabry disease in females. Gene mutation analysis is also recommended when investigating female patients for Fabry disease. 

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Test Details

  • Discipline:

    Biochemistry

    Biochemistry

  • Specimen Container Adult:

    Lithium-heparin whole blood

    Lithium-heparin whole blood

  • Specimen Container Paediatric:

    Lithium-heparin whole blood

    Lithium-heparin whole blood

  • Minimum Volume Adult:

    5 mL

    5 mL

  • Minimum Volume Paediatric:

    5 mL

    5 mL

  • Transport Requirements:

    Send at ambient temperature to arrive within 48 hours.  Samples should not be taken on Fridays.

    (alternatively, plasma and leucocytes may be separated, fast-frozen and both sent to the reference la...

    Send at ambient temperature to arrive within 48 hours.  Samples should not be taken on Fridays.

    (alternatively, plasma and leucocytes may be separated, fast-frozen and both sent to the reference laboratory on dry ice).

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  • Reference Ranges:

    - Leucocyte a-galactosidase: (nmol/hr/mg protein)

    Unaffected                                         33-134​

    Fabry hemizygotes                          0.41 - 5.0

    Fabry heterozygotes               ...

    - Leucocyte a-galactosidase: (nmol/hr/mg protein)

    Unaffected                                         33-134​

    Fabry hemizygotes                          0.41 - 5.0

    Fabry heterozygotes                      4.3 - 73  

    - Plasma a-galactosidase: (nmol/hr/ml)​

    Unaffected                                         4.0-21.9

    Fabry heterozygotes                      0.32 - 7.4  

    Fabry hemizygotes                          0 - 0.9

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  • Other Info:

    Males: Leucocyte enzyme analysis is performed.

    Females: Leucocyte and plasma enzyme analysis is performed.  Second-line testing of lyso-GL-3 may be performed if indicated.

    If genetic testing is req...

    Males: Leucocyte enzyme analysis is performed.

    Females: Leucocyte and plasma enzyme analysis is performed.  Second-line testing of lyso-GL-3 may be performed if indicated.

    If genetic testing is required a separate sample must be taken with appropriate consent.

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  • Routine Contact Name:

    Duty Biochemist

  • Routine Telephone:

    Freeman: 0191 244 8889

    RVI: 0191 282 9719

    Freeman: 0191 244 8889

    RVI: 0191 282 9719

  • Routine Email:

    - For external users: TNU-Tr.duty.biochemist@nhs.net

    - For Trust users: DutyBiochemist@nuth.nhs.uk

  • Specialist Test:

    Yes

    Yes

  • Specialist Contact Name:

    Metabolic Clinical Scientist

    Metabolic Clinical Scientist

  • Specialist Telephone:

    0191 282 9685 (Consultant Clinical Scientist)

    0191 282 0334 (Metabolic Laboratory)

    0191 282 9685 (Consultant Clinical Scientist)

    0191 282 0334 (Metabolic Laboratory)

  • Specialist Email:

Availability:

Sample sent to an external laboratory for analysis

Send To:

Department of Blood Sciences

Level 3
Leazes Wing
Royal Victoria Infirmary
Queen Victoria Road
Newcastle upon Tyne
NE1 4LP

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