Catalog

Autonomic neuropathy due to Fabry’s Disease

No MMS code

Link to WHO Definition

Autonomic neuropathy due to Fabry’s Disease – http://id.who.int/icd/entity/963888228

This is an X-linked recessive lysosomal storage disorder caused by deficient activity of alpha-galactosidase A and the resultant accumulation of globotriaosylceramide and related glycosphingolipids. Autonomic symptoms, particularly related to a small fibre polyneuropathy are seen in addition to renal, cardiac and cerebrovascular manifestations.