It is estimated that there are more than 8,000 different types of rare diseases affecting fewer than 1 in 2000 people although the exact number remains to be calculated. Research into rare diseases in the understanding of rare diseases mechanisms, leading to potential new treatments has been interested strongly to improved targeted and personalised approaches to healthcare.
In the column of rare disease of this issue, we are very honoured to invite an expert in genetic metabolic disease, Dr Carolyn Ellaway from the Western Sydney Genetics Programs, Children’s Hospital at Westmead, Australia to contribute a special article titled “Paediatric Fabry disease”.
As Dr Ellaway summarised that Fabry disease is a rare, progressive X-linked inborn error of the glycosphingolipid metabolic pathway. Mutations of the GLA gene result in deficiency of the lysosomal enzyme, α-galactosidase A with accumulation of glycosphingolipids, particularly globotriaosylceramide (GL3) in the vascular endothelium of various tissues.
In this article, Dr Ellaway has systemically described the pathophysiology, epidemiology, clinical manifestations, diagnosis, importance of early diagnosis, management and treatment of the Fabry disease. If you are interested in on how the timely diagnosis can be made, please read Dr Ellaway’s clear, comprehensive and advanced article “Paediatric Fabry disease”.
Conflicts of Interest: The author has no conflicts of interest to declare.