- By Laurel J. Kelly
Mayo Clinic PathWays: What’s the diagnosis?
This week's case reviews the genetic testing results of a 34-year-old pregnant woman. She was asymptomatic but had received a positive result on a carrier screen for Gaucher disease. This rare genetic disorder is caused by a deficiency in the enzyme that breaks down certain fatty substances. This can result in a buildup of those fatty substances, particularly in the spleen, liver and bone. Can you make the diagnosis?