investigations
Last edited 06/2020 and last reviewed 11/2022
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