Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review

Biochemical and genetic diagnosis of Fabry disease

Bryan Winchester  1 , Elisabeth Young  1
Atul Mehta  1 , Michael Beck  2 , Gere Sunder-Plassmann  3
, editors.
In: Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 18.
Affiliations
Free Books & Documents
Review

Biochemical and genetic diagnosis of Fabry disease

Bryan Winchester et al.
Free Books & Documents

Excerpt

Fabry disease can be diagnosed in affected males by demonstrating a deficiency of α-galactosidase A in plasma and leukocytes. However, the enzymatic assay is unreliable for the detection of carriers, who can be detected reliably only by mutational analysis. All classic hemizygotes and over 90% of heterozygotes have an elevated level of urinary globotriaosylceramide (Gb3 ). For male patients with lower than normal α-galactosidase activity or with an atypical clinical presentation, measurement of urinary Gb3 and sequencing of the whole GLA gene must be carried out.

PubMed Disclaimer

References

    1. Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med. 1967;276:1163–7. - PubMed
    1. Kint JA. Fabry's disease: α-galactosidase deficiency. Science. 1970;167:1268–9. - PubMed
    1. Desnick RJ, Allen KY, Desnick SJ, Raman MK, Bernlohr RW, Krivit W. Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. α-Galactosidase activities in plasma, serum, urine, and leukocytes. J Lab Clin Med. 1973;81:157–71. - PubMed
    1. Beutler E, Kuhl W. Purification and properties of human α-galactosidases. J Biol Chem. 1972;247:7195–200. - PubMed
    1. Desnick RJ, Ioannou YA, Eng CM. α-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. 8th edn. New York: McGraw-Hill; 2001. p. 3733–74

LinkOut - more resources