Fabry disease

Fabry disease is a congenital metabolic disorder and is one of the lysosomal storage diseases. A mutation in the GLA gene leads to a genetic deficiency of the lysosomal enzyme alfa-galactosidase A.

Accumulation of the sphingolipid globotriaosylceramide (Gb3, also abbreviated to GL-3 or known as ceramide trihexoside [CTH]) and progressive damage to cells and organs occurs.

For this reason, patients often present with a whole range of symptoms that may vary in severity.

These include pain in the hands and feet (acroparesthesia), heat intolerance, angiokeratoms (red skin lesions without itching), gastrointestinal discomfort, hearing loss and eye problems also stroke or TIA as well as cardiac and renal dysfunction.