The Chameleon

Fabry Disease

Fabry Disease is an X-chromosomal inherited lysosomal storage disorder based on the deficiency of the enzyme alpha-galactosidase A. This leads to accumulation of globotriaosyl-ceramide (Gb3) in the cells of various organs. The clinical picture of M. Fabry is very heterogeneous and ranges from mild phenotypes rather in heterozygous women to severe clinical course in classically affected men. Characteristic symptoms include acroparesthesia, cardiac symptoms associated with cardiomyopathy and arrhythmias, progressive renal failure and cerebro-vascular complications (strokes). A typical eye manifestation is the cornea verticillata. Therapeutically, 3 drugs are currently available: enzyme replacement therapies with agalsidase alfa or agalsidase beta or chaperone therapy with migalastat. 

Fabry Disease | SphinCS - Clinical Science for LSD

Synonym: Anderson-Fabry Disease
Etiology: Deficiency of alfa-galactosidase A
Gene: GLA Gene
Mode of inheritance: X-Chromosomal

Leading symptoms:

Diagnostics:

Therapy: