FLJ22447
Understanding Fabry Disease (flj22447)
Description:
Fabry disease (also known as Anderson-Fabry disease or flj22447) is a rare, inherited metabolic disorder caused by a deficiency of the alpha-galactosidase A (α-Gal A) enzyme. This enzyme plays a crucial role in breaking down a type of fat called globotriaosylceramide (Gb3). Without sufficient α-Gal A, Gb3 accumulates in cells throughout the body, leading to damage and dysfunction.
Associated Diseases:
Fabry disease affects multiple organs and tissues, including:
- Cardiovascular system: Heart disease, arrhythmias, cardiomyopathy
- Renal system: Kidney failure, proteinuria
- Neurological system: Peripheral neuropathy, strokes, cognitive impairment
- Skin: Angiokeratoma (small, raised, dark red spots)
- Eyes: Corneal clouding, cataracts
Did you Know ?
Globally, Fabry disease affects approximately 1 in every 40,000 to 60,000 males. However, it is estimated that many cases remain undiagnosed or misdiagnosed due to its rarity.
