Fabry Disease

Exam Cram

• Fabry Disease is a X Linked recessive disorder with a faulty alpha glucosidase enzyme gene

• Presentation: peripheral neuropathy, cardiac arrhythmias, fever, red papule rash

• Diagnosis: slit lamp- corneal deposits

• Management: replace alpha glucosidase

References

1. Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, Sims K, Waldek S, Pastores GM, Lee P, Eng CM, Marodi L, Stanford KE, Breunig F, Wanner C, Warnock DG, Lemay RM, Germain DP: Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab 2008, 93:112-128.

2. National Fabry Disease Foundation.  Fabry Disease. Available at: https://www.fabrydisease.org/about-fabry-disease/fabry-disease-inheritance (Accessed: 01 October 2024). 

Page written in 2024.