Fabry disease

Abstract

Fabry Disease is an inherited disease with lack of enzyme activity of α–galactosidase and resulted in accumulation of glycolipids including globotriaosylceramide (Gb3) or globotriaosylsphingosine (Lyso–Gb3) in various cell types of organs.

Currently Enzyme Replacement Therapy (ERT) in which α–galactosidase is infused intravenously has been available and there are many reports showing good outcomes including improvement of prognosis or lower the life–threatening event rates.

However, in the cases who already have had advanced cardiac or renal symptoms before starting ERT, those symptoms were deteriorated despite of ERT. It indicates importance of as early intervention as organ damages are not revealed yet and that early diagnosis and early intervention is critical.