Hurler’s syndrome

A rare, inherited condition caused by an enzyme defect. The syndrome is a type of inborn error of metabolism (see metabolism, inborn errors of) in which there is an abnormal accumulation of substances known as mucopolysaccharides in the tissues. Affected children may appear normal at birth but, at 6–12 months of age, they develop cardiac abnormalities, umbilical hernia, skeletal deformities, and enlargement of the tongue, liver, and spleen. Growth is limited and mental development slows. If the condition is diagnosed in early infancy, a bone marrow transplant may be curative.


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