Fabry disease (MIM 301500) is an X-linked recessive lysosomal storage disorder affecting ~1/40000 males. It is due to a deficiency of the lysosomal hydrolase, alpha-galactosidase A. Males with classical Fabry disease have no residual enzyme activity, whereas atypical patients, usually with symptoms confined to the heart (cardiac variant), have varying degrees of residual activity. These enzyme activity levels are measured and allow the clinical diagnosis to be confirmed. The symptoms of Fabry disease begin during childhood or teenage years and include angiokeratoma, acroparesthesia and ocular features. Cerebrovascular, cardiovascular and renal malfunction may develop later. Clinical manifestation in carrier females can range from being asymptomatic to being as severely affected as affected males. Enzyme replacement therapy for Fabry disease is now well established and in wide use. The gene encoding alpha-galactosidase A (GLA) (Xq22.1) consists of 7 exons and family specific mutations are found throughout the gene, although some recurrent mutations are reported and one mutation, p.Asn215Ser, is commonly found in patients with the cardiac variant.
Also known as
Anderson-Fabry disease; alpha-galactosidase A deficiency; GLA deficiency
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When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test.
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Clinically affected male patients should have their diagnosis confirmed by biochemical analysis; this should be arranged either locally or with the Enzyme Unit, Chemical Pathology, Great Ormond Street Hospital. Biochemically confirmed patients can be referred for mutation analysis. Clinically affected female patients can be referred directly for mutation analysis (due to unreliability of heterozygote detection by biochemical testing). Carrier testing can be offered to female relatives of affected patients once a disease causing mutation has been identified.
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Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
37 Queen Square
1ml EDTA neonates, 5ml EDTA adults
Deletion screen - 20 days; gene screen - 40 days
Disease / group
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Prenatals must be arranged in advance, through a Clinical Genetics department if possible. Amniotic fluid or CV samples should be sent to Cytogenetics for dissecting and culturing, with instructions to forward the sample to the Regional Molecular Genetics laboratory for analysis