Medicine & USMLE

Fabry Disease

Lysosomal Storage Diseases
  1. Krabbe Disease
  2. Hurler and Hunter Syndromes
  3. Fabry Disease
  4. Tay-Sachs and Niemann-Pick
  5. Gaucher Disease
  6. Metachromatic Leukodystrophy
  7. I-Cell Disease

Fabry Disease is an X-linked recessive lysosomal storage disease that is caused by a deficiency of α-galactosidase A.

This leads to a build-up of the sphingolipid ceramide trihexoside. The accumulation of ceramide trihexoside in blood vessels and other organs leads to the clinical findings seen in Fabry disease. Patients may present with peripheral neuropathy, paresethesia, angiokeratomas, and dry skin/hypohidrosis. Late complications of Fabry disease include heart failure and glomerulonephropathy /renal failure.

Find Fabry Disease and more Lysosomal Storage Diseases among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.