Fabry's disease

Fabry disease (also known as Fabry's disease, Anderson-Fabry disease, angiokeratoma corporis diffusum and alpha-galactosidase A deficiency) is a rare X-linked recessive (inherited) lysosomal storage disease, which can cause a wide range of systemic symptoms. The disease is named after one of its discoverers, Johannes Fabry (June 1, 1860–June 29, 1930). A deficiency of the enzyme alpha galactosidase A (a-GAL A, encoded by GLA) due to mutation caus... More

Also known as:

  • Anderson-Fabry disease,
  • Alpha-galactosidase A deficiency,
  • Angiokeratoma corporis diffusum,
  • Fabry disease,
  • Fabry's disorder

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