Fabry disease - Sanjay Manohar's Medical Browser
Fabry disease
external
Synonyms
Lysosomal galactosidase A deficiency
Causes
GLA gene mutation
Effects
Angiokeratoma corporis diffusum
Coronary artery disease
Venous thrombosis
Cornea verticillata
Heart block
Acroparaesthesia
Lipid inclusion
Cerebral infarction
Secondary nephrotic glomerular disease
Congenital cataract
Parents
Sphingolipidosis
X-Linked recessive congenital metabolic disease
Description
"glycosphingolipid accumulation"
Type item name:
Sanjay Manohar
2006