Understanding Fabry Disease
Fabry disease is caused by a defect in the GLA gene. The faulty GLA gene results in a deficiency of the enzyme alpha-galactosidase A, more commonly referred to as α-Gal A. The lysosomal enzyme, α-Gal A, is an essential enzyme required to breakdown globotriaosylceramide (also known as Gb3 or GL-3). In people living with Fabry disease, Gb3 accumulates in various cells throughout the body causing the progressive clinical signs and symptoms of the disease.1
How is Fabry Disease Inherited?
How Common is Fabry Disease?
Fabry disease is considered a rare genetic disorder with an estimated incidence between 1:40,000 to 1: 60,000 males.6 Newborn screening studies being conducted around the world may help shed light on the true incidence of Fabry disease.7
1 Garman SC et al. The Molecular Defect Leading to Fabry Disease: Structure of Human α-Galactosidase.
Journal of Molecular Biology. Volume 337, Issue 2: 319-335 (2004).
2 Germain DP. Fabry Disease.
3 Linhart A et al. Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey.
Eur Heart J. 28:1228–35 (2007).
4 Genetics Home Reference Help Me Understand Genetics, Inheriting Genetic Conditions (2017).
https://ghr.nlm.nih.gov. Accessed August 2017.
5 Laney et al. Diagnosis of Fabry disease via analysis of family history.
Journal of Genetic Counseling, 17(1), 79-83 (2008).
6 National Association of Rare Disorders
https://rarediseases.org/rare-diseases/fabry-disease/. Accessed Sept 2017.
7 Lin HY et al. High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population.
Circ Cardiovasc Genet.2:450–6 (2009).