The enzyme defect can be confirmed on cell culture.
The glycosphingolipid is deposited in urine in complexes which are said to be shaped like Maltese crosses.
Confirmation of the diagnosis can be achieved via finding absent or deficient levels of alpha-galactosidase A in leukocytes, plasma or cultured fibroblasts.
ECG findings in Fabry's disease - click here for examples and further information
Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.