Fabry disease is an inherited X-linked disorder which results from deficient activity of the enzyme alpha-galactosidase A (α-Gal A) and progressive lysosomal deposition of globotriaosylceramide (GL-3) in cells throughout the body.
Patients with Fabry disease may present with a spectrum of clinical manifestations, ranging from a severe classic phenotype in males to asymptomatic disease in some females, with a variety of clinical presentations in between. The age of symptom onset is more consistent in male hemizygotes with a classic presentation than in female heterozygotes. Males with atypical variants often present later in life.
Fabry disease is caused by pathogenic variants in GLA gene mapped to the long arm (Xq22.1 region) of the X chromosome. The diagnosis of Fabry disease is typically established with a combination of biochemical and molecular genetic testing and/or by family history.
Genetics - Molecular Pathology
MOLP
alpha-galactosidase
Fabry
Fabrys
Genetic
GLA
Molecular
4 weeks