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.
- ‘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.’
1930s named after Gertrud Hurler (1889–1965), the Austrian paediatrician who first described it.