Glucocerebrosidase deficiency; Glucosylceramidase deficiency
Prevention
Genetic counseling is recommended for prospective parents with a family history of Gaucher disease. Testing can determine if parents carry the gene that could pass on the Gaucher disease. A prenatal test can also tell if the fetus has Gaucher syndrome.
References
Stanley CA, Bennett MJ. Defects of metabolism in lipids. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 86.
Kumar V, Abbas AK, Fausto N. Robbins and Cotran Pathologic Basis of Disease. 7th ed. St. Louis, Mo: WB Saunders; 2005:163-165.
Sidransky E, Lamarca ME, Ginns EI. Therapy for Gaucher disease: Don't stop thinking about tomorrow. Mol Genet Metab. 2007 Feb;90(2):122-5. Epub 2006 Nov 3.
Images
Previous Section
Review Date: 11/12/2010
Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of
Pediatrics, University of Washington School of Medicine. Also
reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)
