Fabry Disease

About Fabry Disease:

• It is a rare inherited disorder of glycosphingolipid (fat) metabolism resulting from the absent or markedly deficient activity of the lysosomal enzyme, alpha-galactosidase A (α-Gal A).
• It belongs to a group of diseases known as lysosomal storage disorders.
• This enzymatic deficiency is caused by alterations (mutations) in the α-galactosidase A (GLA) gene that instructs cells to make the α-galactosidase A (α-Gal A) enzyme.
• Lysosomes function as the primary digestive tract of cells. 
• Symptoms: Numbness, tingling, burning or pain in the hands or feet, extreme pain during physical activity and heat or cold intolerance etc.
• The types of Fabry disease
  • Classic type:Symptoms of this type appears during childhood or the teenage years. It may be noticeable as early as age two.
  • Late-onset/atypical type: People with late-onset Fabry disease don’t have symptoms until they’re in their 30s or older.
  • The first indication of a problem may be kidney failure or heart disease.
• Treatment: The patients are treated by intravenously administered enzyme replacement therapy (ERT) or Oral Chaperone Therapy

What are Lysosomes?

• These are simple tiny spherical sac-like structures present in the cytoplasm.
• These are membrane-enclosed organelles that contain an array of enzymes capable of breaking down all types of biological polymers—proteins, nucleic acids, carbohydrates, and lipids.
• These function as the digestive system of the cell, serving both to degrade material taken up from outside the cell and to digest obsolete components of the cell itself.