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Fabry's disease: Heterozygote detection by hair root analysis

✍ Scribed by T. Grimm; T. F. Wienker; H. -H. Ropers

Publisher
Springer
Year
1976
Tongue
English
Weight
351 KB
Volume
32
Category
Article
ISSN
0340-6717

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✦ Synopsis

Fabry's disease (angiokeratoma corporis diffusum) can be diagnosed by determination of alpha-galactosidase activity in single hair roots. A technique has been developed permitting subsequent analysis of enzyme activity and protein content of hair root cells. We have applied this method examining 8 obligatorily heterozygous sisters as well as their 5 daughters and 10 sons. Especially for identification of heterozygotes, the method described proved to be easy and reliable.

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