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. 2011 Apr;34(2):509-14.
doi: 10.1007/s10545-010-9261-9. Epub 2011 Jan 13.

Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group

Andreas Gal  1 , Derralynn A Hughes, Bryan Winchester
Affiliations

Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group

Andreas Gal et al. J Inherit Metab Dis. 2011 Apr.
No abstract available

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Figures

Fig. 1
Fig. 1
Algorithm for the laboratory diagnosis of (a) male and (b) female patients with Fabry disease. The flow charts represent summaries of the discussion and conclusions in the text, with extra clarification in points 1-6. 1) Demonstration of a deficiency of α-galactosidase A in leukocytes and plasma from the same blood sample is supporting evidence for a diagnosis of Fabry disease. 2) Variants of Fabry disease with residual α-galactosidase A activity. 3) A patient with some symptoms of Fabry disease not due to deficiency of α-galactosidase A. 4) Class 1 mutation and mutations previously found in affected male or female Fabry patients. 5) Low α-galactosidase A activity can be suggestive of carrier status but not definitive. 6) To decide whether the proband has Fabry disease, all or some of the following investigations should be carried out: (a) re-evaluation of clinical presentation, (b) analysis of family pedigree, (c) measurement of urinary Gb3, and (d) in absence of a Class 1 mutation, any sequence change detected in the GLA gene must be expressed in vitro to investigate its effect on activity and/or structure of enzyme
See this image and copyright information in PMC

References

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