1.
Internist (Berl)
; 61(6): 621-625, 2020 Jun.
Artigo
em Alemão
| MEDLINE
| ID: mdl-32367302
RESUMO
A patient with diffuse angiokeratomas of the lower abdomen and genital region was diagnosed with Fabry disease on the basis of genetic testing. Fabry disease is an X-linked lysosomal storage disease that can affect several organ systems including the heart or kidneys, resulting in reduced median survival. Pathogenetically, Fabry disease leads to a deficiency of the lysosomal enzyme αgalactosidase A (α-GAL A). Treatment options include lifelong enzyme replacement therapy or chaperone therapy.