Fabry disease

Disease modifying treatment available:
Time critical diagnosis and management:
Lateralising:

Definition

None



Taxotomy

Aetiology

Fabry disease is caused by a genetic deficiency of alpha-galactosidase A. It is a lysosomal storage disorder.

Associated genes

Supercategory
Lysosomal storage diseases
Gene
GLA Search ClinVar Search ClinGen


Clinical features


None

Fabry disease may cause the following:




Investigations


Proteinuria may be evident.

None


Laboratory Investigation Result

Treatment


None




Research


Open questions

None