TY - CHAP M1 - Book, Section TI - Gaucher Disease A1 - Balwani, Manisha A1 - Desnick, Robert J. A2 - Murray, Michael F. A2 - Babyatsky, Mark W. A2 - Giovanni, Monica A. A2 - Alkuraya, Fowzan S. A2 - Stewart, Douglas R. Y1 - 2014 N1 - T2 - Clinical Genomics: Practical Applications in Adult Patient Care AB - Disease summary:Gaucher disease is a lysosomal storage disease (LSD) which results from the deficient activity of the degradative enzyme, acid β-glucosidase, and the lysosomal accumulation of its glycosphingolipid substrate, glucosylceramide (GL-1), primarily in the monocyte-macrophage system.Three major clinical subtypes of Gaucher disease have been described. Type 1 is the most common, and is differentiated from type 2 and type 3 by a lack of primary central nervous system involvement.Type 1 Gaucher disease is most common in the Ashkenazi Jewish population (∼1 in 1000 affected; 1 in 15 is a carrier) and is characterized by hepatosplenomegaly, pancytopenia, and bone disease.Type 2 Gaucher disease is characterized by onset in infancy and progressive psychomotor retardation with death by age 2. Individuals with type 3 diseases may have onset in infancy with a slowly progressive neurologic course and may survive into the third or fourth decade of life.Hereditary basis:Gaucher disease (all subtypes) is inherited as an autosomal recessive trait. Heterozygous carriers are asymptomatic, and when both parents are carriers there is a 25% risk for an affected child with each pregnancy.Differential diagnosis (Table 87-1):LSDs and mucopolysaccharidosis: Hepatosplenomegaly, which is seen in Gaucher disease, is present in other lysosomal storage diseases including types A and B Niemann-Pick disease and the mucopolysaccharidoses types I, II, III, VI, and VII. The presence of other clinical features as well as biochemical testing distinguishes these.Saposin C deficiency: Patients with saposin C deficiency can present with symptoms similar to severe neuronopathic Gaucher disease. However, they have normal acid β-glucosidase activity. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accessmedicine.mhmedical.com/content.aspx?aid=1102702947 ER -