Statistics from Altmetric.com
Fabry's disease is an X linked recessive lysosomal storage disorder resulting from a deficiency of the enzyme alpha-galactosidase which causes an inability to catabolise glycosphingolipid.1 There is progressive accumulation of globotriaosylceramide in many organs including skin, myocardium and kidneys. The classical form of the disease affects male homozygotes and presents in adolescence with burning extremity pain (acroparaesthesia) and progressive multi-organ failure. The most common variant is …
Competing interests None.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.