Hurler syndrome, or gargoylism, is a type of mucopolysaccharidosis (MPS I) that produces severe mental retardation. Hurler syndrome is transmitted as an autosomal- recessive trait and is due to the lack of a specific enzyme. This enzymatic defect causes excessive buildup of mucopolysaccharides in the tissues.
A genetic disorder of the autosomal recessive type, resulting from a defect in a specific enzyme; one of a group of disorders called mucopolysaccharidoses (MPS). Children affected with MPS I generally have mental retardation, skeletal deformity (especially of the face), retarded growth often resulting in dwarfism, and a shortened life expectancy, often dying in childhood or adolescence, though some with a mild form of the disorder may live a relatively normal life. Also among the common characteristics are a group of defects called gargoylism (a now-outdated popular name for Hurler’s syndrome). Children with MPS I often also have hydrocephalus, heart problems, and lung and breathing disorders, which generally lead to death in childhood. Characteristics of Hurler’s syndrome become identifiable at about six to 12 months of age. Parents with a family history of MPS 1 may well want to seek genetic counseling; MPS 1 defects can be detected before birth with prenatal testing, as through amniocentesis.
Hereditary disease (autosomal recessive disease) in which mucopolysaccharides and lipids accumulate in the tissues, causing mental retardation, enlarged liver and spleen, enlarged head (sometimes hydrocephalus), and low forehead; it usually leads to death in childhood from cardiac or pulmonary complications.
An inherited metabolic defect in which the body is unable to make an enzyme called alpha-L-iduronidase. The enzyme helps the body break down sugar molecules called mucopolysaccharides, which are essential building blocks of connective tissue. In Hurler syndrome, the mucopolysaccharides accumulate in cells, where they cause progressive damage. As more and more cells are damaged, symptoms appear. Newborns with the disorder appear normal at birth, and symptoms emerge by the end of the first year of life. Symptoms include the development of coarse, thick features, prominent dark eyebrows, increased body hair, cloudy corneas, progressive stiffness of the joints, deafness, and mental retardation. Hurler syndrome occurs in an estimated one of 250,000 babies born.
An inborn defect of metabolism causing the accumulation of mucopolysaccharides and lipids in the cells of the body. This leads to mental retardation, enlargement of the liver and spleen, deformities of the bones, and coarsening and thickening of the features (gargoylism).
Hurler syndrome is a rare inherited disorder caused by a deficiency in a specific enzyme. This syndrome belongs to a category of genetic metabolic disorders, known as inborn errors of metabolism, which results in the abnormal buildup of compounds known as mucopolysaccharides in the body’s tissues.
Children with Hurler syndrome may initially seem healthy at birth, but between six to twelve months, they begin to exhibit heart abnormalities, umbilical hernias, skeletal deformities, and an enlarged tongue, liver, and spleen. Their growth is restricted and there is a slowdown in mental development. If diagnosed early in infancy, the condition can potentially be treated with a bone marrow transplant.