Fabry disease in Australia part 1: what is Fabry disease?

Fabry disease is a rare genetic metabolic disease with a challenging clinical presentation. Associate Professors Andrew Kornberg (Paediatric Neurologist, Royal Children’s Hospital Melbourne) and Carolyn Ellaway (Paediatrician, Clinical Geneticist and Metabolic Physician, Sydney Children’s Hospital Network) discuss the signs of Fabry disease, the importance of early diagnosis and how it can be treated. Intended for healthcare professionals.

For more information about diagnostic testing, please visit sanofigenzymeonline.com.au/diagnostics

References:

Schiffmann R. Pharmacol Ther 2009;122:65–77. Schiffmann R and Ries M. Pediatr Neurol 2016;64:10e20. Laney DA et al. Genet Med 2015;17(5):323–30. Sims K et al. Stroke 2009;40:788–94. Hopkin RJ et al. Mol Genet Metab 2016;117(2):104–13. Tøndel C et al. J Am Soc Nephrol 2013;24(1):137–48. Skrunes R et al. Clin J Am Soc Nephrol 2017;12(9):1470–9.

 

The views and opinions expressed in the presentation are solely those of Associate Professor Carolyn Ellaway and Associate Professor Andrew Kornberg and should not be attributed to any organisation with which the presenter is employed or affiliated and are not necessarily the views of Sanofi Genzyme.

 

sanofi‐aventis australia pty ltd trading as Sanofi Genzyme. ABN 31 008 558 807. Talavera Corporate Centre, Building D, 12‐24 Talavera Road, Macquarie Park, NSW 2113. MAT-AU-2102516. Date of preparation December 2021. 2200137