Skip to main content
Gaucher disease type I is a treatable lysosomal storage disease leading to hepatosplenomegaly, anemia and thrombocytopenia, and skeletal involvement including osteoporosis, osteonecrosis, lytic lesions and Erlenmeyer flask deformity. Gaucher disease type II presents in infancy with severe neurologic and visceral involvement but without skeletal manifestations. Type III presents as Type I but with the addition of neurologic involvement. Inheritance is autosomal recessive. Type I Gaucher is common in the Ashkenazi Jewish population, with a prevalence of 1/450 – 1/1000. Sequencing of all 11 exons and their flanking regions will detect greater than 98% of mutations in individuals affected with Gaucher disease.
Seattle Children’s provides healthcare without regard to race, color, religion (creed), sex, gender identity or expression, sexual orientation, national origin (ancestry) or disability. Financial assistance for medically necessary services is based on family income and hospital resources and is provided to children under age 21 whose primary residence is in Washington, Alaska, Montana or Idaho.
© 1995-2014 Seattle Children’s Hospital