The patient, a mid-40s female, presented with extremity pain, kidney failure, high blood pressure, fatigue, tinnitus. Initial testing found low levels of the enzyme alpha-galactosidase A and a genetic analysis found a mutation in the GLA gene. These results along with corneal opacity and restrictive cardiomyopathy lead to a diagnosis of Fabry's disease, a rare genetic disorder caused by deficient activity of the enzyme alpha-galactosidase A. Treatment involves replacing the missing enzyme with Replagal.

1. Case Study
 Patients shows the following symptoms
 Extremity pain
 Kidney Failure
 High Blood Pressure
 Fatigue
 Tinnitus
 Female Mid 40’s

2. What is the initial diagnosis?

3. What Studies Would You Run?
 Enzyme Assay
 Molecular Genetic Analysis of Gla Gene
 Kidney Biopsy

4. Sphingolipids
 Sphingolipids, or glycosylceramides, are a class of lipids containing a
backbone of sphingoid bases, a set of aliphatic amino alcohols that
includes sphingosine.

5. Patients Molecular Genetic Analysis of GLA Gene

6. Other Results
 Low α-galactosidase A (α-GAL) activity
 Corneal Opacity
 Restrictive Cardiomyopathy

9. What is the Treatment for Fabry’s

10. Treatment?
 Replagal (Costs 200,000 a year)
 Other treatments are used to reduce pain
 Such as analgesics and NSAIDS