Hurler syndrome

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A hereditary disorder caused by deficiency of an enzyme that results in the accumulation of protein–carbohydrate complexes and fats in the cells of the body (see mucopolysaccharidosis). This leads to severe mental retardation, enlargement of the liver and spleen, heart defects, deformities of the bones, and coarsening and thickening of facial features (gargoylism). A bone marrow transplant offers the only hope of treatment. Medical name: mucopolysaccharidosis type I. G. Hurler (1889–1965), Austrian paediatrician

Subjects: Medicine and Health.

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