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 10/13/2022
Updated by: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.