Chapter 4 - Endocrine, nutritional and metabolic diseases (E00-E89)»Metabolic disorders (E70-E88)»Fabry (-Anderson) disease (E75.21)

E75.21

Fabry (-Anderson) disease

Related indications (MeSH) (1)

Fabry Disease30 drugs (16 approved, 14 experimental)

An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.