In Gaucher disease, liver and spleen enlargement (hepatosplenomegaly) can occur as the result of the liver not processing glucocerebroside properly. The buildup of this substance in body tissues can also lead to severe damage to the central nervous system in infants.
Review Date: 10/30/2016
Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.