Also known as Hurler’s syndrome, gargoylism is a rare condition due to lack of a speci?c ENZYME. It is a progressive disorder usually leading to death before the age of 10 years. The affected child is usually normal during the ?rst few months of life; mental and physical deterioration then set in. The characteristic features include coarse facial features (hence the name of the condition), retarded growth, chest deformity, sti? joints, clouding of the cornea (see EYE), enlargement of the liver and spleen, deafness, and heart murmurs, with mental deterioration. It occurs in about one in 100,000 births.
n. see Hunter’s syndrome; Hurler’s syndrome.
A collection of familial metabolic disorders, the best known of which is Hurler’s syndrome (see GARGOYLISM). Others include Hunter’s, Maroteaux-Lamy and Scheie’s syndromes. The disorders, which result from a faulty gene-producing abnormality in a speci?c ENZYME, affect one child in 10,000. Those affected usually die before reaching adulthood.... mucopolysaccaridhosis
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 learning disability, enlargement of the liver and spleen, and prominent coarse facial features (gargoylism). The disease is *sex-linked, being restricted to males, although females can be *carriers. Medical name: mucopolysaccharidosis type II. [C. H. Hunter (1872–1955), US physician]... hunter’s syndrome
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 learning disabilities, 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]... hurler’s syndrome
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