Enzymatic Defect in Fabry's Disease

TLDR

Abstract

FABRY'S disease is a hereditary systemic disorder that was first recognized in affected males as a disease characterized by multiple small dark-purple macules and papules in the umbilical region, scrotum and other areas.1 Initially, attention was paid primarily toward these dermatologic manifestations, and the disease was designated angiokeratoma corporis diffusum universale. As the systemic nature of the disorder became apparent, the patients were found to have a lipid material deposited throughout the body. The lipid was at first regarded as a phospholipid, but it has recently been shown to be a neutral glycolipid.2 The abnormal gene responsible for this lipidosis . . .