Hurler's syndrome
/ˈhəːləz
/noun [mass noun] Medicine
A defect in metabolism arising from congenital absence of an enzyme, causing accumulation of lipids and mucopolysaccharides, and resulting in mental retardation, a protruding abdomen, and bone deformities including an abnormally large head. Also called gargoylism.Moreover, cord blood stem cells appear to repair more of the damage caused by Hurler's syndrome than does adult bone marrow....
- The normal development of myelin sheaths is impaired in children born with certain inherited diseases, such as Tay-Sachs disease, Niemann-Pick disease, Gaucher's disease, and Hurler's syndrome.
- If the disease is not stopped, children with Hurler's syndrome usually die by 5 to 10 years of age.
Origin
1930s: named after Gertrud Hurler (1889–1965), the Austrian paediatrician who first described it.